NEOPLASIA

TermP valueIC# diseasesdiseases# genesgenes
serine-type endopeptidase activity1.70191e-065.436

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {?THYROID CANCER, NONMEDULLARY, 5}, DESMOID DISEASE, HEREDITARY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC, TYLOSIS WITH ESOPHAGEAL CANCER, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA

28

F5, CTNNB1, RUNX1, MYC, POT1, CREBBP, HABP2, IGF2R, CDH1, TP53, CBL, MMP1, IL6, IFNG, CASP8, RHBDF2, APC, AKT1, AR, IL1B, ADA, ERBB2, SERPINA1, NME1, STAT3, HLA-DQA1, HFE, RB1

cation channel activity0.0008696914.8340

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PAPILLARY THYROID CARCINOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

31

TSC2, STIM1, CTNNB1, RB1CC1, STX11, SERPINA1, PTEN, AKT1, MYD88, PTPN11, TJP2, NKX2-1, GATA2, DLC1, KRAS, CCND1, IFNG, PCNA, MYC, FOXO1, CDH1, HRAS, CDK4, CDC73, ERBB2, BDNF, CREBBP, STAT3, BRAF, ACD, TRPV3

RNA polymerase II activating transcription factor binding2.63032e-067.8225

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

13

GATA1, CDKN2A, CCND1, RB1, TP53, ESR1, CREBBP, STAT3, CDH1, SMARCA4, EP300, CTNNB1, GATA2

exonuclease activity0.01487176.9916

WERNER SYNDROME, ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, DYSKERATOSIS CONGENITA, X-LINKED, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MULIBREY NANISM, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PROTEUS SYNDROME, SOMATIC

12

ATM, AR, DKC1, LIG4, PCNA, STAT3, BLM, TRIM37, WRN, POLD1, AKT1, POLA1

androgen receptor binding6.34027e-078.2718

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BREAST-OVARIAN CANCER, FAMILIAL 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SOTOS SYNDROME 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ANDROGEN INSENSITIVITY, PROTEUS SYNDROME, SOMATIC

12

SMARCA4, RNF6, AR, RB1, ESR1, SMAD4, BRCA1, EP300, CTNNB1, AKT1, NSD1, KAT5

molecular transducer activity1.95756e-162.37112

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

129

MYC, POT1, F5, FAS, GNAS, IGF2R, BMPR1A, STK10, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, MMP1, CDKN2A, WT1, IL1B, CASP8, FGFR4, PIK3CA, SOS1, PDGFRB, CREBBP, HLA-DQA1, TGFBR2, PCNA, ERBB2, IL1RN, SMARCA4, RUNX1, FGFR2, RB1CC1, NME1, ERCC3, MYD88, GATA2, FGFR1, PIK3CD, PTCH2, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, KARS, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, SH2D1A, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, MEN1, PDGFRL, PTPRJ, TSG101, NRAS, SUFU, SMAD4, OPCML, ETV6, PPM1D, GDNF, VHL, KIF1B, AKT1, KRAS, KAT5, AIP, ASCL1, PARK2, TINF2, MNX1, FASLG, PHOX2B, EPHB2, CDK4, CDKN1C, NF1, FGFR3, PAX3, ADA, AXIN1, KIT, HMMR, RB1, POLA1, EDARADD, SERPINC1, AR, SMARCB1, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, GJB2, DKC1, MAP3K1, INSR, WNT10A, DLC1, TP53, BLM, TRIM28, BRAF, IL6, CDKN1B, PHB, STX11, RET, PTEN, HRAS, DCC, HLA-DQB1, CD27, ESR1, ODC1, HFE

RNA polymerase II transcription factor binding transcription factor activity7.72207e-065.9332

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

23

GATA1, CTNNB1, MYC, SMAD4, AR, IL6, RBBP8, GATA2, PPARG, STAT3, AKT1, SMARCA4, KAT5, BAX, TP53, WT1, NKX2-1, EP300, MAX, RB1, CREBBP, ESR1, TGFBR2

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription1.07295e-125.3150

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, FRASIER SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

38

GATA1, AR, SMARCA4, TP53, SUFU, PAX3, CHEK2, ERBB2, ETV6, CDKN2A, GATA2, PPARG, ESR1, PLAG1, NSD1, BRCA1, AKT1, CTNNB1, MSH2, CCND1, ASCL1, HOXB13, RUNX1, PAX7, WT1, NKX2-1, LZTR1, MYC, MEN1, EP300, GDNF, PTEN, RB1, TLR4, CREBBP, STAT3, KAT5, TGFBR2

iron ion binding0.002332645.3629

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, PAPILLARY THYROID CARCINOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

AR, PPARG, CTNNB1, MYC, POT1, F5, FAS, PLA2G2A, VHL, INSR, AKT1, TP53, KAT5, IL6, IFNG, PCNA, EP300, FOXO1, ERBB2, CYP2D6, ESR1, BRAF, MT-CO1

nucleic acid binding transcription factor activity1.67905e-172.75114

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {WILMS TUMOR SUSCEPTIBILITY-5}, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {THYROID CANCER, NONMEDULLARY, 4}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

113

MAD1L1, BRCA2, MYC, POT1, GNAS, BMPR1A, MLH1, RBBP8, SEPT9, PPARG, CDH1, CTNNB1, BTK, IKZF1, STK11, CDKN2A, WT1, CDKN1C, MMP1, SMARCA4, NBN, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, BAP1, TGFBR2, NF2, ERBB2, KRAS, RUNX1, FGFR2, CASP8, LZTR1, NME1, ERCC3, HOXB13, BUB1B, GATA2, PLAG1, PIK3CD, IFNG, CBL, SMARCE1, CCND1, PAX7, KARS, NKX2-1, MEN1, EP300, RAD51, MAX, TNNT2, RB1, PCNA, STAT3, FOXE1, ACD, GATA1, TSG101, SUFU, SMAD4, ETV6, FOXO1, TJP2, APC, VHL, HRAS, BRCA1, AKT1, RSPO1, KAT5, AIP, ASCL1, PARK2, MNX1, TWIST1, CDK4, IL1B, PTEN, FGFR3, PAX3, TLR2, BARD1, AR, SMARCB1, CHEK2, TLR4, POU6F2, NTRK1, PTPN11, ATM, NSD1, DKC1, SOS1, TP53, MSH2, TRIM28, TINF2, IL6, CDKN1B, PHB, BDNF, RET, LZTS1, ZFHX3, DCC, GDNF, RNASEL, ESR1, TRIM37, DICER1

cysteine-type endopeptidase inhibitor activity0.0006922777.1619

COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PROTEUS SYNDROME, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, BURKITT LYMPHOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

13

IL6, AURKA, CDKN1B, VHL, ESR1, CASP8, STAT3, CDH1, MYC, EP300, AKT1, TP53, CD27

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription1.58344e-056.7527

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

17

SMARCA4, GATA1, CREBBP, SNAI2, GDNF, RB1, PPARG, SMAD4, SUFU, ESR1, MYC, AR, STAT3, FOXO1, AKT1, TP53, ERBB2

SH3/SH2 adaptor activity0.0002185397.321

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, 46XY SEX REVERSAL 6, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, NEUROCUTANEOUS MELANOSIS, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PIEBALDISM, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

13

FASLG, NRAS, PDGFRB, KRAS, SH2D1A, CBL, MAP3K1, KIT, SOS1, AKT1, NTRK1, ERBB2, PTPN11

DNA-directed DNA polymerase activity0.04183798.486

WERNER SYNDROME, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}

6

PCNA, RAD51, POLD1, WRN, POLA1, POLE

ATP-dependent helicase activity0.0002913716.8321

NEUROFIBROMATOSIS-NOONAN SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ROTHMUND-THOMSON SYNDROME, LI-FRAUMENI SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ?N SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

13

ERCC3, ERCC2, TP53, BRIP1, NF1, ATR, RTEL1, PCNA, BLM, WRN, RECQL4, POLA1, POLE

protein serine/threonine kinase activity3.92607e-223.8982

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, TYROSINEMIA, TYPE I, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS-NOONAN SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, NEUROFIBROMATOSIS, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PEUTZ-JEGHERS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, LYNCH SYNDROME I, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA, X-LINKED 1, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DIAMOND-BLACKFAN ANEMIA 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ?N SYNDROME, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

75

GATA1, FASLG, TSC2, NF2, TGFBR1, MSH2, CDK4, CTNNB1, AURKA, EPHB2, DLC1, POT1, PTEN, ATR, CHEK2, ETV6, BCL10, PIK3CA, BMPR1A, ATM, ERCC3, CDKN2A, STK10, BUB1B, MYD88, CORO1A, FGFR1, STAT3, MAP3K1, PCNA, ERBB2, PRKAR1A, HRAS, BRCA1, AKT1, BTK, SMARCA4, AXIN1, SOS1, CCND1, ESR1, STK11, AR, CARD11, CDKN1B, PHB, NF1, FH, ACVR1B, BDNF, CDKN3, LIG4, GATA2, EP300, FOXO1, TP53, POLD1, CDH1, SMARCB1, POLE, DCC, IL1B, FAH, RPS19, MYC, HIP1, SMAD4, CREBBP, TSC1, TGFBR2, KAT5, BRAF, TLR2, RB1, POLA1

transcription corepressor activity3.75627e-144.8553

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 24, FRASIER SYNDROME, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

47

GATA1, BARD1, VHL, KRAS, AURKA, MYC, SMAD4, PTEN, AR, AKT1, IDH1, PHB, CCND1, RBBP8, GATA2, PPARG, PCNA, SUFU, IL6, BRCA1, CTPS1, MXI1, TSG101, MSH2, TRIM28, BAX, RUNX1, TP53, WT1, CASP8, NKX2-1, LZTR1, CHEK2, SMARCA4, EP300, CDH1, MAX, NSD1, SNAI2, ERBB2, BDNF, CREBBP, ESR1, KAT5, CTNNB1, RB1, PAX3

histone acetyltransferase activity0.01621858.2319

ADRENAL CORTICAL CARCINOMA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BREAST-OVARIAN CANCER, FAMILIAL 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CHOROID PLEXUS PAPILLOMA, {GLIOBLASTOMA 3}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

8

SMARCE1, TP53, MYC, CREBBP, EP300, BRCA2, SMARCA4, KAT5

transcription cofactor activity1.01403e-153.6279

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, IMMUNODEFICIENCY 24, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SOTOS SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, CHOROID PLEXUS PAPILLOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

77

GATA1, BARD1, ERBB2, PPARG, TSG101, AXIN2, MYC, DLC1, STX11, EP300, SMAD4, PTEN, CREBBP, AR, WRN, MYD88, GDNF, IDH1, ATM, CTPS1, ERCC3, IL6, BLM, MXI1, BCL10, GATA2, WT1, VHL, ESR1, MAP3K1, NSD1, MEN1, BMPR1A, BRCA1, RECQL4, CTNNB1, AXIN1, TLR4, AIP, MAX, TRIM28, SMARCE1, CCND1, BAX, AURKA, CDKN1B, PHB, CASP8, RUNX1, NKX2-1, KAT5, LZTR1, SUFU, SMARCA4, CDKN2A, TWIST1, TP53, AKT1, HRAS, DCC, WWOX, CDK4, SNAI2, KRAS, CHEK2, NHP2, PCNA, ABCB11, BDNF, RBBP8, STAT3, CDH1, MSH2, ODC1, RB1, PAX3, SMARCB1

nucleotide binding4.48885e-271.75156

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

174

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, PTPRJ, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, FGFR3, LIG4, RUNX1, TRIM28, RB1CC1, DLC1, LZTR1, NME1, WRN, IDH1, IDH2, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, NTHL1, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, SDHD, ETV6, FOXO1, TJP2, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, IFNG, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, XRCC4, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, SDHA, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, CASP8, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

transmembrane receptor protein tyrosine kinase activity6.33738e-147.0426

MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LEPRECHAUNISM, 46XY SEX REVERSAL 6, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

21

FGFR4, FGFR2, FGFR1, PDGFRB, PDGFRL, MYC, MET, IGF2R, ERBB2, FGFR3, INSR, EPHB2, STAT3, CDH1, MAP3K1, RET, KIT, AKT1, NTRK1, KRAS, PTPN11

transferase activity, transferring one-carbon groups0.04809015.234

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

22

LIG4, MYC, POT1, AR, NSD1, STAT3, BRCA1, TP53, TRIM28, PIK3CD, CCND1, CDKN1B, PCNA, SMARCA4, EP300, CDC73, RB1, LZTR1, CREBBP, ESR1, BAP1, PTEN

transferase activity, transferring acyl groups0.001328175.1342

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BECKWITH-WIEDEMANN SYNDROME, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

27

BRCA2, PPARG, TSG101, MYC, SMAD4, MYD88, ATM, CDKN2A, VHL, SMARCA4, KAT5, SMARCE1, IL6, TP53, PCNA, TGFBR1, EP300, POLD1, TLR2, CDKN1C, CDC73, KRAS, RB1, CREBBP, ESR1, CTNNB1, POLA1

protein tyrosine kinase activity8.06924e-155.7742

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LI-FRAUMENI SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, COWDEN SYNDROME 7, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

33

RET, PDGFRL, ITK, RUNX1, FGFR4, ERBB2, NTRK1, PTPN11, IGF2R, FGFR1, MAP3K1, INSR, CDH1, AXIN1, FGFR2, CCND1, MET, TP53, TGFBR1, MYC, EPHB2, POLD1, AKT1, HRAS, FASLG, PDGFRB, FGFR3, STAT3, BTK, SEC23B, KIT, MMP1, RB1

guanine/thymine mispair binding0.0070381712.574

MUIR-TORRE SYNDROME, LYNCH SYNDROME I, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MISMATCH REPAIR CANCER SYNDROME

3

MLH1, MSH6, MSH2

cytokine receptor activity0.0001163016.3927

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

18

PTPRJ, IL1B, KRAS, IL6, GDNF, PPARG, IFNG, IL1RN, TLR2, MYC, STAT3, RET, EP300, PIK3CA, AKT1, MYD88, PTEN, PTPN11

serine hydrolase activity7.21334e-075.1943

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {?THYROID CANCER, NONMEDULLARY, 5}, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GLIOMA SUSCEPTIBILITY 9}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, TYLOSIS WITH ESOPHAGEAL CANCER, LI-FRAUMENI SYNDROME, PROTEUS SYNDROME, SOMATIC

31

F5, RUNX1, MYC, POT1, CREBBP, HABP2, IGF2R, SERPINA1, CDH1, TP53, CBL, MMP1, IL6, IFNG, PHB, IL1B, RHBDF2, CASP8, TGFBR1, APC, AKT1, AR, TERT, ADA, RB1, SMAD4, NME1, STAT3, HLA-DQA1, HFE, ERBB2

protein binding transcription factor activity2.39144e-173.5581

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, IMMUNODEFICIENCY 24, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PROTEUS SYNDROME, SOMATIC, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SOTOS SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

82

GATA1, BARD1, ERBB2, PPARG, CTNNB1, AXIN2, MYC, DLC1, SMARCB1, EP300, SMAD4, PTEN, STX11, CREBBP, AR, BRCA1, ASCL1, WRN, KRAS, MYD88, TWIST1, IDH1, ATM, CTPS1, ERCC3, MXI1, BLM, RBBP8, BCL10, GATA2, WT1, VHL, ESR1, MAP3K1, NSD1, MEN1, BMPR1A, SERPINA1, RECQL4, IL6, TSG101, AXIN1, TLR4, AIP, MAX, TRIM28, FGFR1, SMARCE1, CCND1, BAX, RB1, CDKN1B, PHB, CASP8, RUNX1, NKX2-1, KAT5, LZTR1, SUFU, SMARCA4, CDKN2A, FOXO1, TP53, AKT1, HRAS, DCC, GDNF, CDK4, SNAI2, CHEK2, WWOX, NHP2, PCNA, ABCB11, BDNF, STAT3, CDH1, MSH2, ODC1, TGFBR2, PAX3, AURKA

GTPase activity5.21117e-055.138

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PAPILLARY THYROID CARCINOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

29

TSC2, SMARCA4, SMAD4, NME1, PIK3R2, MYD88, GNAS, ATM, RRAS2, CCND1, SEPT9, ESR1, PRKAR1A, CDH1, CDKN1B, TRIM28, ASCL1, BRAF, IL6, PARK2, IFNG, PIK3CA, HRAS, DCC, ERBB2, PAX3, ATR, STAT3, TINF2

helicase activity1.0532e-095.8435

ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, BLOOM SYNDROME, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MISMATCH REPAIR CANCER SYNDROME, LI-FRAUMENI SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, CHOROID PLEXUS PAPILLOMA

27

DDX41, MSH6, SMARCA4, MYC, CREBBP, WRN, ATM, ERCC3, DICER1, RECQL4, BLM, TP53, BRIP1, RAD54B, RTEL1, PCNA, CHEK2, RAD54L, RAD51, POLE, MCM4, ERCC2, NF1, ATR, DKC1, MSH2, POLA1

protein kinase binding3.54341e-223.7989

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DESMOID DISEASE, HEREDITARY, WERNER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

83

PCNA, GATA1, TSC2, CYLD, BARD1, AR, SMARCA4, AXIN2, EPHB2, DLC1, POT1, ATR, CHEK2, FAS, WRN, BCL10, RAD51, PTPN11, ATM, ERCC3, CARD11, BLM, BUB1B, SEPT9, PPARG, STAT3, MAP3K1, MET, SUFU, ERBB2, PIK3CA, HRAS, BRCA1, PRKAR1A, AKT1, BTK, CTNNB1, AXIN1, SOS1, CCND1, ESR1, CBL, STK11, SEC23B, CDKN2A, PARK2, RB1, CDKN1B, NKX2-1, TLR4, RUNX1, KIT, BDNF, KAT5, LZTR1, RB1CC1, TGFBR1, EP300, FOXO1, TP53, APC, AURKA, SMARCB1, DCC, TINF2, TERT, CDK4, RPS19, MYC, BAX, PDGFRB, PTPRJ, SMAD4, CREBBP, NME1, TSC1, TGFBR2, MSH2, BRAF, ACD, ODC1, PTEN, POLA1

kinase binding1.20496e-233.6494

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DESMOID DISEASE, HEREDITARY, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

90

TSC2, MAD1L1, MYC, POT1, FAS, MLH1, CYLD, PPARG, PRKAR1A, CDK4, BTK, STK11, CDKN2A, PIK3CA, SOS1, ERBB2, CREBBP, BLM, PDGFRB, NF2, SMARCA4, RUNX1, RB1CC1, LZTR1, NME1, WRN, ERCC3, BUB1B, CBL, CCND1, MET, NKX2-1, TGFBR1, EP300, FOXO1, MAX, RB1, BDNF, STAT3, SEC23B, ACD, SEPT9, GATA1, MEN1, CTNNB1, SUFU, SMAD4, RAD51, BRCA1, AKT1, KRAS, AXIN1, CARD11, PARK2, AXIN2, TP53, EPHB2, TERT, RPS19, PTEN, PTPRJ, BRAF, KAT5, KIT, POLA1, BARD1, AR, SMARCB1, AURKA, CHEK2, TLR4, BCL10, PTPN11, ATM, ESR1, MAP3K1, DLC1, MSH2, TINF2, BAX, CDKN1B, PCNA, APC, HRAS, DCC, FASLG, ATR, TSC1, TGFBR2, ODC1

protein phosphatase binding4.32762e-066.2333

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, CHOROID PLEXUS PAPILLOMA

21

SMARCA4, FASLG, FOXO1, TERT, CCND1, MET, ERBB2, KRAS, TP53, CTNNB1, MYC, CDKN1B, STAT3, CDH1, PTPN11, TGFBR1, FAS, SOS1, AKT1, TGFBR2, HRAS

phosphatase binding3.78483e-105.6151

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PANCREATIC CANCER/MELANOMA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

32

TSC2, NF2, CTNNB1, TP53, MYC, SMAD4, FAS, AKT1, PIK3CA, PTPN11, SMARCA4, KRAS, CCND1, CDH1, KARS, AXIN1, SOS1, CDKN2A, MET, CDKN1B, FASLG, TGFBR1, FOXO1, PTEN, HRAS, TERT, ERCC2, ERBB2, POT1, CREBBP, STAT3, TGFBR2

protein domain specific binding1.65975e-203.2109

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, LI-FRAUMENI SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

101

MYC, POT1, FAS, GNAS, MYD88, HAX1, PRKAR1A, CDK4, TSG101, BTK, STK11, CDKN2A, WT1, TERT, PIK3CA, SOS1, SNAI2, ERCC2, PDGFRB, CREBBP, ERBB2, KRAS, RUNX1, CASP8, LZTR1, AR, WRN, ERCC3, BAX, GDNF, GATA2, PIK3CD, CBL, SMARCE1, CCND1, MET, PAX7, TGFBR1, EP300, RAD51, MAX, RB1, ITK, PCNA, STAT3, ACD, SEPT9, GATA1, CTNNB1, SMAD4, ETV6, FOXO1, TJP2, BRCA1, AKT1, SMARCA4, AXIN1, AIP, ASCL1, CARD11, PARK2, AXIN2, TP53, TWIST1, CDH1, IL1B, PTEN, PTPRJ, PAX3, KIT, TLR2, POLA1, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, BCL10, PTPN11, ATM, PTPN12, DICER1, MAP3K1, INSR, WNT10A, DLC1, MSH2, TRIM28, IL6, CDKN1B, BDNF, RET, APC, HRAS, DCC, FASLG, ATR, ESR1, TGFBR2, TINF2, CORO1A

purine nucleotide binding1.94872e-311.99151

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

165

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, NTHL1, CBL, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, IFNG, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

steroid binding0.001703126.2826

PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ADRENAL CORTICAL CARCINOMA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, TUBEROUS SCLEROSIS 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CHOROID PLEXUS PAPILLOMA

17

NF1, TERT, FGFR2, SMARCA4, IL6, PPARG, IFNG, FGFR1, ESR1, CREBBP, BDNF, STAT3, AR, EP300, FOXO1, TP53, CDKN1B

protein serine/threonine kinase inhibitor activity9.03265e-068.6317

{MELANOMA, CUTANEOUS MALIGNANT, 3}, BECKWITH-WIEDEMANN SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BREAST-OVARIAN CANCER, FAMILIAL 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PANCREATIC CANCER/MELANOMA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

8

CDKN1C, CDKN2A, CDKN1B, SMAD4, PRKAR1A, BRCA1, CDK4, HRAS

cell adhesion molecule binding0.0004350245.338

EMBERGER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY 21, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ALAGILLE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADRENAL CORTICAL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

26

STIM1, RET, CTNNB1, AURKA, CBL, MYC, NF2, PTPN11, TJP2, IL6, GATA2, INSR, CDH1, IFNG, FGFR2, ASCL1, CCND1, TP53, PTPN12, PCNA, MEN1, JAG1, PTPRJ, STAT3, PDGFB, COL7A1

protein kinase activator activity2.08011e-067.1329

?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PEUTZ-JEGHERS SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

16

CCND1, CBL, STK11, PIK3CD, IL6, ERBB2, RUNX1, PCNA, MYC, STAT3, PTEN, CREBBP, TINF2, POT1, AKT1, PIK3CA

binding, bridging1.69058e-075.3643

GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

31

NRAS, NF2, ERBB2, KRAS, AURKA, CBL, RB1CC1, PAX3, PTEN, NTRK1, PTPN11, FGFR1, ESR1, MAP3K1, BRCA1, AKT1, FGFR2, PARK2, TP53, TLR4, MEN1, PIK3CA, SOS1, HRAS, FASLG, PDGFRB, POT1, CREBBP, STAT3, KIT, SH2D1A

transcription regulatory region DNA binding1.8917e-173.7582

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SOTOS SYNDROME 1, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, ATAXIA-TELANGIECTASIA, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

77

PCNA, GATA1, MAD1L1, RET, PAX7, DKC1, TSG101, TP53, MYC, EP300, SMAD4, PTEN, AR, ASCL1, ETV6, POT1, TWIST1, ATM, SMARCB1, TERT, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, CDKN1B, SUFU, IL6, BRCA1, BAP1, AKT1, BTK, MMP1, SMARCA4, MSH2, WT1, MAX, FGFR2, SMARCE1, CCND1, CDKN2A, RUNX1, KARS, PHB, IL1B, PHOX2B, BDNF, KAT5, LZTR1, CHEK2, MEN1, TLR4, FOXO1, NME1, POLD1, CDH1, ZFHX3, DCC, GDNF, CDKN1C, CDK4, CDC73, SNAI2, TGFBR2, IFNG, RB1, NKX2-1, CREBBP, HOXB13, STAT3, CASP8, AXIN1, TINF2, CTNNB1, ERBB2, PAX3

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides2.3506e-153.2591

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ADRENAL CORTICAL CARCINOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

86

TSC2, BRCA2, MSH6, MYC, GNAS, MYD88, MLH1, HAX1, PRKAR1A, RECQL4, SOS1, PIK3CA, POLE, ERCC2, PDGFRB, CREBBP, MSH2, PTEN, ERBB2, MLH3, NME1, WRN, ERCC3, BUB1B, ABCC11, CBL, CCND1, MET, NTHL1, RAD54L, RAD51, KRAS, IFNG, STAT3, BRAF, SEPT9, TGFBR1, CTNNB1, SMAD4, KIF1B, AKT1, SMARCA4, AXIN1, ASCL1, PARK2, TP53, BRIP1, RAD54B, CDH1, MCM4, XRCC3, NF1, ABCB11, TNNT2, POLA1, DDX41, AR, KLF6, AURKA, CHEK2, TLR4, PIK3R2, ATM, RRAS2, ATP7A, DICER1, DKC1, INSR, DLC1, BLM, TRIM28, TRIM37, IL6, CDKN1B, PHB, PMS2, RTEL1, PCNA, HRAS, DCC, CDK4, RNASEL, NHP2, ATR, ESR1, TINF2

histone acetyltransferase binding0.02953359.1113

COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LI-FRAUMENI SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ANDROGEN INSENSITIVITY, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA

6

TP53, CREBBP, SMAD4, AR, EP300, KAT5

carbohydrate derivative binding3.3547e-351.76163

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {?THYROID CANCER, NONMEDULLARY, 5}, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, BIRT-HOGG-DUBE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

187

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, TGFBR1, FGFR4, SMARCA4, PIK3CA, NBN, POLE, DDX41, PTPRJ, CDC73, JAG1, TGFBR2, ERBB2, CREBBP, MSH2, WWOX, BAP1, PTEN, FANCD2, NF2, MLH3, FGFR3, LIG4, RUNX1, TRIM28, RB1CC1, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, MLH1, FGFR1, ERCC2, PIK3CD, NTHL1, ESR1, CBL, CCND1, MET, PAX7, NKX2-1, FLCN, MEN1, EP300, RAD51, TLR2, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, GPC3, VHL, CTNNB1, SERPINC1, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, PDGFRB, PNP, UBE2T, KIF1B, BRCA1, AKT1, RSPO1, KAT5, AIP, ASCL1, CARD11, PARK2, TINF2, TP53, BRIP1, PHOX2B, EPHB2, GJB2, IFNG, POLD1, CDH1, MCM4, CDKN1C, HAX1, XRCC3, NF1, IL1RN, PAX3, ABCB11, BRAF, AXIN1, KIT, HMMR, POLA1, ABCC11, NRAS, BARD1, AR, CORO1A, SMARCB1, AURKA, CHEK2, TLR4, HABP2, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, TSC1, MAP3K1, INSR, RECQL4, SERPINA1, SOS1, KARS, BLM, FGFR2, ODC1, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, GDNF, FASLG, CDK4, RPS19, RNASEL, ADA, NHP2, TERT, ATR, EXT2, CASP8, COL7A1, TRIM37, MMP1, DICER1, PDGFB

hydrolase activity, acting on acid anhydrides2.98179e-153.2491

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ADRENAL CORTICAL CARCINOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

86

TSC2, BRCA2, MSH6, MYC, GNAS, MYD88, MLH1, HAX1, PRKAR1A, RECQL4, SOS1, PIK3CA, POLE, ERCC2, PDGFRB, CREBBP, MSH2, PTEN, ERBB2, MLH3, NME1, WRN, ERCC3, BUB1B, ABCC11, CBL, CCND1, MET, NTHL1, RAD54L, RAD51, KRAS, IFNG, STAT3, BRAF, SEPT9, TGFBR1, CTNNB1, SMAD4, KIF1B, AKT1, SMARCA4, AXIN1, ASCL1, PARK2, TP53, BRIP1, RAD54B, CDH1, MCM4, XRCC3, NF1, ABCB11, TNNT2, POLA1, DDX41, AR, KLF6, AURKA, CHEK2, TLR4, PIK3R2, ATM, RRAS2, ATP7A, DICER1, DKC1, INSR, DLC1, BLM, TRIM28, TRIM37, IL6, CDKN1B, PHB, PMS2, RTEL1, PCNA, HRAS, DCC, CDK4, RNASEL, NHP2, ATR, ESR1, TINF2

purine NTP-dependent helicase activity0.0002913716.8321

NEUROFIBROMATOSIS-NOONAN SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ROTHMUND-THOMSON SYNDROME, LI-FRAUMENI SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ?N SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

13

ERCC3, ERCC2, TP53, BRIP1, NF1, ATR, RTEL1, PCNA, BLM, WRN, RECQL4, POLA1, POLE

sequence-specific DNA binding RNA polymerase II transcription factor activity1.34099e-174.0181

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ATAXIA-TELANGIECTASIA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SOTOS SYNDROME 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, LYNCH SYNDROME I, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, PAPILLARY THYROID CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PEUTZ-JEGHERS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {THYROID CANCER, NONMEDULLARY, 4}, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

70

PCNA, GATA1, RET, PAX7, TSG101, TP53, MYC, SMAD4, PTEN, AR, ASCL1, ETV6, TWIST1, BMPR1A, ATM, SMARCB1, HOXB13, BUB1B, GATA2, WT1, PPARG, ESR1, PLAG1, NSD1, HRAS, BRCA1, BAP1, AKT1, BTK, MMP1, SMARCA4, MSH2, AIP, TRIM28, STK11, CCND1, CDKN2A, IL6, CDKN1B, PHB, IL1B, TLR4, RUNX1, GNAS, NKX2-1, KAT5, LZTR1, SUFU, MEN1, EP300, FOXO1, NBN, CDH1, ZFHX3, MAX, GDNF, CDKN1C, CDK4, SNAI2, CHEK2, ERBB2, BDNF, CREBBP, STAT3, TGFBR2, FOXE1, PTPN11, CTNNB1, RB1, PAX3

receptor signaling protein serine/threonine kinase activity3.38422e-057.0627

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

14

BRAF, STK10, TGFBR2, CTNNB1, MAP3K1, BTK, PTEN, BMPR1A, TGFBR1, HRAS, TLR2, AKT1, TP53, ACVR1B

3'-5' DNA helicase activity0.00026819710.9912

XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ROTHMUND-THOMSON SYNDROME, LI-FRAUMENI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BLOOM SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA

5

WRN, RECQL4, ERCC3, TP53, BLM

zinc ion binding9.41389e-192.36130

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 13, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DESMOID DISEASE, HEREDITARY, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, SOTOS SYNDROME 1, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADENOMAS, MULTIPLE COLORECTAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, COWDEN SYNDROME 7, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

136

MAD1L1, MSH6, MYC, POT1, MYD88, MLH1, RBBP8, CYLD, PPARG, CDH1, CTNNB1, BTK, STK11, CDKN2A, WT1, IL1B, CASP8, MMP1, SMARCA4, PIK3CA, SOS1, CDC73, ERCC2, SNAI2, PDGFRB, SMAD4, CREBBP, MSH2, BAP1, PTEN, PCNA, NF2, ERBB2, MLH3, XRCC4, LIG4, RUNX1, RB1CC1, LZTR1, NME1, WRN, ERCC3, IL6, BUB1B, GATA2, FGFR1, PIK3CD, RPS29, EDARADD, CBL, SMARCE1, CCND1, PAX7, MEN1, EP300, RAD51, MAX, TNNT2, RB1, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, TGFBR1, VHL, TSG101, MUTYH, SDHD, ETV6, FOXO1, UBE2T, HRAS, BRCA1, AKT1, RSPO1, KAT5, ASCL1, CARD11, PARK2, AXIN2, TP53, RAD54B, EPHB2, IFNG, RECQL4, MCM4, TINF2, CDKN1C, NF1, IL1RN, TLR4, ABCB11, AXIN1, TLR2, POLA1, DDX41, BARD1, AR, SMARCB1, AURKA, CHEK2, PAX3, NTRK1, JAG1, PTPN11, ATM, PTPN12, ATP7A, MXI1, NSD1, DKC1, MAP3K1, INSR, SERPINA1, POLE, BLM, TRIM28, BRAF, BAX, CDKN1B, PHB, RNF6, STX11, APC, ZFHX3, DCC, GDNF, CDK4, RNASEL, ADA, ESR1, TGFBR2, TRIM37, DICER1

cytokine receptor binding2.46609e-154.8357

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, MULIBREY NANISM, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RUBINSTEIN-TAYBI SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

50

FASLG, ERBB2, KRAS, AURKA, FGFR2, MYC, POT1, PTEN, FAS, MYD88, BMPR1A, ATM, BAX, NTRK1, HAX1, PPARG, ESR1, PTPN11, PIK3CD, CDH1, IFNG, BTK, RUNX1, CBL, CCND1, CDKN2A, IL6, CDKN1B, IL1B, TLR4, PCNA, SERPINA1, BCL10, CASP8, TGFBR1, EP300, PIK3CA, TP53, AKT1, HRAS, TNFRSF4, CD27, SMAD4, IL1RN, BDNF, CREBBP, STAT3, TGFBR2, TRIM37, PDGFRB

cytokine activity3.12821e-134.9548

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ?IMMUNODEFICIENCY 16, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

45

GATA1, FASLG, PAX7, TP53, MYC, SMAD4, PTEN, AR, FAS, PIK3CA, BMPR1A, ATM, CCND1, HAX1, PPARG, ESR1, PTPN11, SERPINA1, TNFRSF4, CDH1, IFNG, TLR4, RUNX1, SMARCE1, CDKN2A, IL6, CDKN1B, IL1B, CASP8, BDNF, PAX3, TGFBR1, GATA2, EP300, FOXO1, AKT1, CDKN1C, CDK4, CD27, ERBB2, PCNA, CREBBP, STAT3, TGFBR2, ACVR1B

kinase inhibitor activity2.46807e-096.9727

ATAXIA-TELANGIECTASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

18

ATM, FASLG, CDKN1C, CDK4, CDKN2A, PDGFRB, STAT3, CREBBP, BTK, ESR1, PRKAR1A, SMAD4, BRCA1, SOS1, AKT1, CDKN1B, HRAS, INSR

RNA polymerase II regulatory region DNA binding2.82276e-164.4365

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SOTOS SYNDROME 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

58

PCNA, GATA1, CHEK2, RET, PAX7, TSG101, TP53, MYC, SMAD4, CREBBP, AR, ETV6, GDNF, ATM, CDKN2A, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, IL6, BRCA1, BAP1, AKT1, SMARCA4, MSH2, TLR4, CCND1, FGFR2, MMP1, HOXB13, RUNX1, CDKN1B, IL1B, PHOX2B, NKX2-1, KAT5, LZTR1, SUFU, MEN1, EP300, FOXO1, PTEN, SMARCB1, MAX, CDKN1C, CDK4, IFNG, ERBB2, BDNF, NME1, STAT3, CASP8, TGFBR2, CTNNB1, RB1, PAX3

core promoter proximal region DNA binding6.25916e-165.1255

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

45

GATA1, MEN1, SMARCA4, TP53, MYC, SMAD4, AR, ETV6, GDNF, ATM, CDKN2A, GATA2, PPARG, ESR1, PLAG1, NSD1, BRCA1, AKT1, CTNNB1, MSH2, TLR4, CCND1, HOXB13, RUNX1, PAX7, PHOX2B, NKX2-1, KAT5, LZTR1, SUFU, RET, EP300, FOXO1, PTEN, SMARCB1, MAX, CHEK2, RB1, BDNF, CREBBP, STAT3, TGFBR2, BAP1, ERBB2, PAX3

enhancer sequence-specific DNA binding5.46572e-106.7635

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

22

GATA1, CTNNB1, RUNX1, MYC, PAX3, CDKN2A, GATA2, PPARG, STAT3, BRCA1, AKT1, SMARCA4, CCND1, TP53, NKX2-1, CHEK2, RET, EP300, GDNF, RB1, CREBBP, ESR1

tumor necrosis factor receptor superfamily binding3.71986e-057.7819

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MULIBREY NANISM, ATAXIA-TELANGIECTASIA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

12

ATM, FASLG, IL6, TP53, CASP8, SMAD4, MYC, TRIM37, FAS, AKT1, MYD88, IFNG

protein complex scaffold0.002455037.018

{SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, RUBINSTEIN-TAYBI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, 46XY SEX REVERSAL 6, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

13

CBL, NF2, MAP3K1, PARK2, PTEN, AURKA, CREBBP, EPHB2, CASP8, AXIN1, AKT1, DLC1, HRAS

ATPase activity7.44657e-084.550

ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OCCIPITAL HORN SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

41

BRCA2, MSH6, MLH3, AURKA, MYC, TLR4, PTEN, ATR, AR, WRN, ATM, ERCC3, ATP7A, BLM, HAX1, KIF1B, RECQL4, CTNNB1, MSH2, PHB, ABCC11, BRIP1, RAD54B, RTEL1, PCNA, AXIN1, PMS2, SMARCA4, RAD51, TP53, POLE, CDK4, MLH1, ERCC2, NF1, ABCB11, NHP2, ESR1, XRCC3, PDGFRB, POLA1

DNA binding5.62069e-221.88148

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, {WILMS TUMOR SUSCEPTIBILITY-5}, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 13, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUIJS-AALFS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, PAGET DISEASE OF BONE 6, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, {THYROID CANCER, NONMEDULLARY, 4}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

166

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, F5, GNAS, MYD88, BMPR1A, SMARCA4, MLH1, RBBP8, CYLD, PPARG, RECQL4, CTNNB1, BTK, SOS1, IKZF1, STK11, CDKN2A, WT1, IL1B, FH, MMP1, LIG4, NBN, POLE, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, SMARCB1, PCNA, NF2, ERBB2, MLH3, IL1RN, KRAS, RUNX1, TRIM28, CASP8, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, FGFR1, PLAG1, PIK3CD, NTHL1, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, FGFR3, RAD51, MAX, IFNG, RB1, ITK, STX11, STAT3, FOXE1, ACD, ACVR1B, GATA1, TGFBR1, SETBP1, VHL, TSG101, SUFU, RAD54L, SMAD4, ETV6, FOXO1, ERCC4, APC, UBE2T, ZFHX3, BRCA1, AKT1, RSPO1, KAT5, AIP, ZNF687, ASCL1, PARK2, AXIN2, MNX1, BRIP1, PHOX2B, TWIST1, TP53, POLD1, CDH1, MCM4, TINF2, CDKN1C, XRCC3, NF1, XRCC4, PAX3, TNNT2, AXIN1, KIT, TLR2, POLA1, DDX41, BARD1, AR, KLF6, AURKA, CHEK2, TLR4, GTF2H5, POU6F2, NTRK1, PTPN11, ATM, RNF6, MXI1, PALB2, DKC1, INSR, SPRTN, KARS, BLM, FGFR2, ODC1, IL6, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, LZTS1, HRAS, DCC, GDNF, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, ESR1, TGFBR2, TRIM37, NSD1, PDGFB, DICER1

DNA helicase activity1.71442e-117.9521

NEUROFIBROMATOSIS-NOONAN SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ROTHMUND-THOMSON SYNDROME, LI-FRAUMENI SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

15

ERCC3, ERCC2, WRN, TP53, BRIP1, NF1, RAD54B, RTEL1, PCNA, BLM, MCM4, RAD51, RECQL4, POLA1, POLE

methyltransferase activity0.01813995.2934

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

22

LIG4, MYC, POT1, AR, NSD1, STAT3, BRCA1, TP53, TRIM28, PIK3CD, CCND1, CDKN1B, PCNA, SMARCA4, EP300, CDC73, RB1, LZTR1, CREBBP, ESR1, BAP1, PTEN

transforming growth factor beta-activated receptor activity0.003135599.639

MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

5

ACVR1B, PTEN, TGFBR2, TGFBR1, BMPR1A

enzyme inhibitor activity5.16443e-184.0375

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {BUDD-CHIARI SYNDROME}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, PEUTZ-JEGHERS SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, WERNER SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, IMMUNODEFICIENCY 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, LYMPHOPROLIFERATIVE SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DIAMOND-BLACKFAN ANEMIA 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

68

FASLG, SERPINC1, NF2, GPC3, PPARG, SMARCA4, AURKA, MYC, POT1, SMAD4, F5, BARD1, WRN, AKT1, MYD88, FOXO1, ATM, SPINK1, MXI1, HAX1, WWOX, VHL, ESR1, INSR, ERBB2, PRKAR1A, IL6, PIK3CD, CDH1, CTNNB1, KAT5, CBL, FGFR1, STK11, BRCA1, CCND1, MET, RB1, CDKN1B, IL1B, TLR4, PCNA, CASP8, TGFBR1, EP300, PIK3CA, TP53, APC, SOS1, HRAS, DCC, TINF2, CDKN1C, CDK4, RPS19, CD27, PTEN, IL1RN, SERPINA1, CREBBP, CDKN2A, STAT3, BAX, BTK, ODC1, MMP1, PDGFRB, COL7A1

nucleoside phosphate binding4.48885e-271.75156

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

174

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, PTPRJ, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, FGFR3, LIG4, RUNX1, TRIM28, RB1CC1, DLC1, LZTR1, NME1, WRN, IDH1, IDH2, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, NTHL1, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, SDHD, ETV6, FOXO1, TJP2, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, IFNG, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, XRCC4, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, SDHA, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, CASP8, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

DNA polymerase binding0.00052843510.835

FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER

5

ACD, PCNA, RAD51, POLA1, FANCD2

growth factor activity2.88363e-165.2850

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BANNAYAN-RILEY-RUVALCABA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ALAGILLE SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

44

TGFBR1, FGFR1, CTNNB1, TP53, MYC, SERPINA1, PTEN, GPC3, AKT1, NTRK1, TWIST1, BMPR1A, PDGFRB, GDNF, PPARG, ESR1, IL6, WNT10A, CDH1, PAX7, KAT5, FGFR4, SMARCE1, CCND1, RUNX1, IFNG, BDNF, PAX3, RET, EP300, FOXO1, SOS1, HRAS, CDKN1C, JAG1, ERBB2, FGFR3, PCNA, CREBBP, STAT3, PDGFB, MMP1, TGFBR2, ACVR1B

N-acetyltransferase activity0.0004354727.2126

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?N SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA

13

CREBBP, BRCA2, TP53, VHL, ESR1, MYC, SMAD4, POLA1, SMARCA4, EP300, SMARCE1, RB1, KAT5

ATPase activity, coupled1.46903e-095.0638

ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OCCIPITAL HORN SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, LI-FRAUMENI SYNDROME, CHOROID PLEXUS PAPILLOMA

35

MSH6, CTNNB1, TP53, MYC, TLR4, ATR, WRN, ATM, ERCC3, ATP7A, BLM, HAX1, PIK3CD, RECQL4, SMARCA4, MSH2, PHB, ABCC11, BRIP1, RAD54B, RTEL1, PCNA, PMS2, RAD51, POLE, CDK4, MLH1, ERCC2, NF1, ABCB11, NHP2, ESR1, XRCC3, PDGFRB, POLA1

amino acid binding0.03457615.9528

?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

17

PCNA, IL1B, BAX, IL6, RAD51, CTNNB1, TP53, KARS, MYC, EP300, POT1, PTEN, SERPINA1, FOXO1, AKT1, ERBB2, HRAS

phosphatidylinositol 3-kinase binding0.03531999.0711

NEUROCUTANEOUS MELANOSIS, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BURKITT LYMPHOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEPRECHAUNISM, IMMUNODEFICIENCY 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

6

CBL, PDGFRB, NRAS, MYC, INSR, CORO1A

receptor tyrosine kinase binding8.32441e-057.4122

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

13

PIK3CD, KRAS, IFNG, TP53, INSR, BDNF, PCNA, TGFBR1, STAT3, AKT1, PIK3R2, ERBB2, PTPN11

growth factor binding3.68127e-135.8746

CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DIAMOND-BLACKFAN ANEMIA 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, TYLOSIS WITH ESOPHAGEAL CANCER, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

33

VHL, FGFR4, POT1, PTEN, AR, GNAS, NTRK1, IGF2R, HAX1, FGFR1, ESR1, INSR, CDH1, KAT5, SOS1, FGFR2, IL6, TP53, RHBDF2, BDNF, MYC, TGFBR1, FOXO1, AKT1, HRAS, IL1B, RPS19, PDGFRB, FGFR3, STAT3, TINF2, TGFBR2, PDGFB

actin binding0.0003647094.2554

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

40

GATA1, MAD1L1, NF2, PPARG, TSG101, MYC, SMAD4, PTEN, AR, PIK3R2, AKT1, PTPN11, ERCC4, TJP2, CORO1A, VHL, DKC1, PIK3CD, CDH1, SMARCA4, BLM, CBL, CDKN2A, TP53, PTPN12, BDNF, TGFBR1, PIK3CA, APC, SOS1, HRAS, DCC, HAX1, TNNT2, HIP1, POT1, STAT3, KIT, CTNNB1, ERBB2

cysteine-type endopeptidase regulator activity involved in apoptotic process0.002849867.4816

LYMPHOPROLIFERATIVE SYNDROME 2, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

11

BAX, CD27, AURKA, CREBBP, CASP8, CDKN1B, STAT3, MYC, AKT1, TP53, CTNNB1

heparin binding2.04483e-125.2851

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLIOMA SUSCEPTIBILITY 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MULTIPLE ENDOCRINE NEOPLASIA IIB, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BIRT-HOGG-DUBE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ALAGILLE SYNDROME, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADRENAL CORTICAL CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

39

PCNA, SERPINC1, TGFBR1, PAX7, CTNNB1, TP53, MYC, FLCN, PTEN, RSPO1, GNAS, PTPN11, IL6, FGFR1, ESR1, CDH1, CDKN1B, KAT5, SOS1, FGFR4, FGFR2, CCND1, IFNG, NKX2-1, RB1CC1, RET, FOXO1, AKT1, HRAS, DCC, CDK4, JAG1, ERBB2, BDNF, STAT3, COL7A1, MMP1, RB1, PDGFB

transcription factor binding transcription factor activity2.02994e-173.5581

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, IMMUNODEFICIENCY 24, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, PROTEUS SYNDROME, SOMATIC, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ROTHMUND-THOMSON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SOTOS SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

82

GATA1, BARD1, ERBB2, PPARG, CTNNB1, AXIN2, MYC, DLC1, SMARCB1, EP300, SMAD4, PTEN, STX11, CREBBP, AR, BRCA1, ASCL1, WRN, KRAS, MYD88, TWIST1, IDH1, ATM, CTPS1, ERCC3, MXI1, BLM, RBBP8, BCL10, GATA2, WT1, VHL, ESR1, MAP3K1, NSD1, MEN1, BMPR1A, SERPINA1, RECQL4, IL6, TSG101, AXIN1, TLR4, AIP, MAX, TRIM28, FGFR1, SMARCE1, CCND1, BAX, RB1, CDKN1B, PHB, CASP8, RUNX1, NKX2-1, KAT5, LZTR1, SUFU, SMARCA4, CDKN2A, FOXO1, TP53, AKT1, HRAS, DCC, GDNF, CDK4, SNAI2, CHEK2, WWOX, NHP2, PCNA, ABCB11, BDNF, STAT3, CDH1, MSH2, ODC1, TGFBR2, PAX3, AURKA

ribonucleoside binding6.98395e-322.01151

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

164

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

core promoter proximal region sequence-specific DNA binding4.9827e-165.1355

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

45

GATA1, MEN1, SMARCA4, TP53, MYC, SMAD4, AR, ETV6, GDNF, ATM, CDKN2A, GATA2, PPARG, ESR1, PLAG1, NSD1, BRCA1, AKT1, CTNNB1, MSH2, TLR4, CCND1, HOXB13, RUNX1, PAX7, PHOX2B, NKX2-1, KAT5, LZTR1, SUFU, RET, EP300, FOXO1, PTEN, SMARCB1, MAX, CHEK2, RB1, BDNF, CREBBP, STAT3, TGFBR2, BAP1, ERBB2, PAX3

passive transmembrane transporter activity6.95333e-084.1960

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, RUBINSTEIN-TAYBI SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CARCINOID TUMORS, INTESTINAL, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

49

PCNA, TSC2, STIM1, ERBB2, TSG101, TP53, GJB2, DLC1, STX11, POT1, PTEN, NME1, PIK3R2, MYD88, PIK3CA, PTPN11, TJP2, BAX, CORO1A, IL6, PIK3CD, AKT1, CTNNB1, CCND1, SDHD, CDKN2A, IFNG, NKX2-1, SERPINA1, RB1CC1, GATA2, EP300, FOXO1, CDH1, HRAS, IL1B, CDK4, CDC73, KRAS, MYC, TRPV3, BDNF, CREBBP, STAT3, BRAF, F5, ACD, HAX1, MT-CO1

protein kinase activity4.0879e-343.41101

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, TYROSINEMIA, TYPE I, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

105

TSC2, MYC, POT1, MYD88, BMPR1A, STK10, PPARG, PRKAR1A, CDH1, BTK, SOS1, STK11, CDKN2A, NF1, FH, FGFR4, SMARCA4, PIK3CA, POLE, SNAI2, PDGFRB, CREBBP, ERBB2, NF2, LIG4, RUNX1, FGFR2, NME1, ERCC3, BUB1B, IGF2R, GATA2, FGFR1, PIK3CD, CBL, CCND1, MET, NKX2-1, TGFBR1, EP300, RAD51, HIP1, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACVR1B, GATA1, PDGFRL, CTNNB1, CDKN3, SMAD4, ETV6, FOXO1, BRCA1, AKT1, KRAS, KAT5, ASCL1, CARD11, TP53, EPHB2, POLD1, CDK4, IL1B, RPS19, PTEN, FGFR3, AXIN1, KIT, TLR2, POLA1, AR, SMARCB1, AURKA, CHEK2, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, BCL10, ESR1, MAP3K1, INSR, DLC1, MSH2, TRIM28, BRAF, IL6, CDKN1B, PHB, BDNF, RET, HRAS, DCC, FASLG, RNASEL, ATR, TSC1, TGFBR2, MMP1, CORO1A

serine-type peptidase activity4.57425e-075.2243

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {?THYROID CANCER, NONMEDULLARY, 5}, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GLIOMA SUSCEPTIBILITY 9}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, TYLOSIS WITH ESOPHAGEAL CANCER, LI-FRAUMENI SYNDROME, PROTEUS SYNDROME, SOMATIC

31

F5, RUNX1, MYC, POT1, CREBBP, HABP2, IGF2R, SERPINA1, CDH1, TP53, CBL, MMP1, IL6, IFNG, PHB, IL1B, RHBDF2, CASP8, TGFBR1, APC, AKT1, AR, TERT, ADA, RB1, SMAD4, NME1, STAT3, HLA-DQA1, HFE, ERBB2

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity1.57786e-134.8557

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

46

GATA1, SMARCA4, TP53, MYC, SMAD4, AR, ETV6, GDNF, CDKN2A, GATA2, PPARG, ESR1, PLAG1, NSD1, BRCA1, BAP1, AKT1, SMARCB1, MSH2, CCND1, ASCL1, HOXB13, RUNX1, PAX7, WT1, TLR4, NKX2-1, KAT5, LZTR1, SUFU, MEN1, EP300, FOXO1, NBN, PTEN, MAX, SNAI2, CHEK2, RB1, BDNF, CREBBP, STAT3, TGFBR2, CTNNB1, ERBB2, PAX3

ATP binding4.8143e-352.25148

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

157

MAD1L1, BRCA2, MSH6, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, CTPS1, BTK, STK11, CDKN2A, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, IL6, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, HAX1, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, DDX41, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

GTP binding2.1111e-084.1954

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PAPILLARY THYROID CARCINOMA, TUBEROUS SCLEROSIS 2, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

47

TSC2, NF2, SMARCA4, AURKA, NRAS, MYC, SMAD4, NME1, PIK3CA, PIK3R2, MYD88, GNAS, ATM, ERCC3, IL6, SEPT9, ESR1, INSR, PRKAR1A, CDH1, IFNG, AXIN1, SOS1, CCND1, TRIM28, ASCL1, BRAF, CDKN2A, PARK2, CDKN1B, STX11, CHEK2, TGFBR1, EP300, RRAS2, RAD51, AKT1, HRAS, DCC, KRAS, ERBB2, PAX3, ATR, STAT3, BAP1, TINF2, TLR2

sulfur compound binding2.20673e-134.7860

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BIRT-HOGG-DUBE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ALAGILLE SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PAPILLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

47

SERPINC1, GPC3, PAX7, CTNNB1, TP53, MYC, POT1, PTEN, FLCN, GNAS, PTPN11, CCND1, BAX, FGFR1, ESR1, INSR, IL6, CDH1, IFNG, KAT5, SOS1, FGFR4, FGFR2, CDKN2A, CDKN1B, FASLG, NKX2-1, RB1CC1, TGFBR1, RET, FOXO1, POLD1, AKT1, HRAS, DCC, IL1B, CDK4, JAG1, TNNT2, ERBB2, PCNA, RSPO1, STAT3, COL7A1, MMP1, RB1, PDGFB

steroid hormone receptor binding3.62896e-086.9327

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BECKWITH-WIEDEMANN SYNDROME, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY 24, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

19

SMARCA4, RNF6, ERCC3, AR, TP53, PPARG, SMAD4, MYC, NSD1, CTNNB1, ESR1, CREBBP, BRCA1, EP300, STAT3, CTPS1, AKT1, RB1, KAT5

heme binding0.01462485.918

CARCINOID TUMORS, INTESTINAL, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PARAGANGLIOMAS 3, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ANDROGEN INSENSITIVITY, RUBINSTEIN-TAYBI SYNDROME, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

17

CREBBP, BARD1, SDHD, IL6, MYC, MET, IFNG, CD82, CYP2D6, SDHC, ESR1, PTPN11, AR, TLR4, AKT1, ERBB2, MT-CO1

protein kinase regulator activity4.30391e-165.7255

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, PEUTZ-JEGHERS SYNDROME, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

36

ERBB2, RUNX1, MYC, POT1, AR, GDNF, ATM, CDKN2A, ESR1, PRKAR1A, BRCA1, AKT1, TP53, BTK, CBL, STK11, TINF2, CCND1, MET, CDKN1B, CDKN1C, PCNA, IL6, PIK3CA, APC, SOS1, HRAS, FASLG, CDK4, CDC73, PTEN, SMAD4, CREBBP, STAT3, ODC1, PDGFRB

microtubule binding0.001913635.3835

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SHWACHMAN-DIAMOND SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

24

MAD1L1, STIM1, CTNNB1, AURKA, MYC, POT1, FAS, MYD88, CARD11, BUB1B, KIF1B, AKT1, SMARCA4, KAT5, CCND1, TP53, LZTR1, FOXO1, APC, PTEN, TLR4, CREBBP, AXIN1, SBDS

kinase activity3.59506e-363.03113

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, IMMUNODEFICIENCY 24, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

122

TSC2, MSH6, MYC, POT1, MYD88, BMPR1A, STK10, CYLD, PPARG, PRKAR1A, CTPS1, BTK, SOS1, STK11, CDKN2A, FH, FGFR4, SMARCA4, PIK3CA, POLE, SNAI2, TGFBR2, CREBBP, PDGFRB, NF2, ERBB2, MLH3, FGFR3, LIG4, RUNX1, FGFR2, CASP8, NME1, ERCC3, IL6, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, CBL, CCND1, MET, IFNG, NKX2-1, TGFBR1, EP300, RAD51, HIP1, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, HAX1, ACVR1B, GATA1, PDGFRL, DKC1, CTNNB1, CDKN3, SMAD4, ETV6, FOXO1, TJP2, VHL, BRCA1, AKT1, KRAS, KAT5, ASCL1, CARD11, TP53, PHOX2B, EPHB2, POLD1, CDH1, IL1B, RPS19, NF1, XRCC4, BRAF, AXIN1, KIT, TLR2, POLA1, AR, SMARCB1, AURKA, CHEK2, NTRK1, PTPN11, ATM, PTPN12, BCL10, TSC1, MAP3K1, INSR, DLC1, MSH2, TRIM28, TINF2, BAX, CDKN1B, PHB, PMS2, BDNF, RET, PTEN, HRAS, DCC, FASLG, CDK4, RNASEL, ATR, ESR1, TRIM37, MMP1, CORO1A

nuclear hormone receptor binding1.78867e-066.0436

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BECKWITH-WIEDEMANN SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, IMMUNODEFICIENCY 24, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

VHL, CTNNB1, MYC, SMAD4, CREBBP, AR, RNF6, ERCC3, NSD1, PPARG, STAT3, BRCA1, CTPS1, SMARCA4, KAT5, TP53, EP300, AKT1, RB1, POT1, ABCB11, ESR1, PTEN

beta-catenin binding1.98101e-086.9826

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYNCH SYNDROME I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

18

SMARCA4, ESR1, CREBBP, MYC, PTPRJ, CTNNB1, AXIN2, STAT3, SUFU, SMAD4, CDH1, MSH2, AR, EP300, AKT1, APC, PTEN, AXIN1

cysteine-type endopeptidase inhibitor activity involved in apoptotic process0.03201858.5414

LYMPHOPROLIFERATIVE SYNDROME 2, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

7

CD27, AURKA, CREBBP, STAT3, AKT1, TP53, CDKN1B

hydrolase activity, acting on ester bonds1.36394e-133.2185

LI-FRAUMENI SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, PROSTATE CANCER 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ROTHMUND-THOMSON SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, ICHTHYOSIS, X-LINKED, CYLINDROMATOSIS, FAMILIAL, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, BROOKE-SPIEGLER SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?N SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

88

MYC, POT1, GNAS, MLH1, RBBP8, HAX1, PPARG, RECQL4, BTK, IL1B, SMARCA4, PIK3CA, SOS1, CDC73, ERCC2, PDGFRB, CREBBP, BLM, BAP1, ERBB2, PTPRJ, MLH3, RUNX1, CASP8, AR, WRN, PLA2G2A, IL6, PIK3CD, CBL, CCND1, NTHL1, RAD54L, EP300, RAD51, TNNT2, DKC1, CYLD, ACVR1B, GATA1, TGFBR1, CTNNB1, CDKN3, PPM1D, FOXO1, MEN1, BRCA1, AKT1, LIG4, KAT5, PARK2, TP53, POLD1, CDH1, TERT, PTEN, XRCC4, PAX3, STS, KIT, TLR2, POLA1, BARD1, NME1, AURKA, CHEK2, TLR4, PTPN11, ATM, PTPN12, ERCC4, STAT3, INSR, DLC1, KARS, MSH2, ODC1, BAX, PMS2, PCNA, HRAS, FASLG, CDK4, RNASEL, ATR, ESR1, TRIM37, DICER1

ubiquitin-protein transferase activity2.61435e-055.0637

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MISMATCH REPAIR CANCER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LYNCH SYNDROME I, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

30

BARD1, MSH6, UBE2T, SMARCA4, RUNX1, CBL, MYC, TLR4, FAS, MYD88, RNF6, BAX, VHL, ESR1, BRCA1, CDH1, TRIM28, BRAF, CCND1, PARK2, TP53, CHEK2, EP300, FOXO1, AKT1, RB1, STAT3, TRIM37, BAP1, PDGFB

ATP-dependent DNA helicase activity1.25917e-098.6313

NEUROFIBROMATOSIS-NOONAN SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ROTHMUND-THOMSON SYNDROME, NEUROFIBROMATOSIS, TYPE 1, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}

11

ERCC3, ERCC2, NF1, BRIP1, RTEL1, PCNA, BLM, WRN, RECQL4, POLA1, POLE

RNA polymerase II transcription factor binding5.19438e-106.3432

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

24

GATA1, CTNNB1, MYC, PAX3, AR, RBBP8, GATA2, PPARG, STAT3, BRCA1, CDH1, SMARCA4, CCND1, TP53, PCNA, LZTR1, CHEK2, EP300, POLD1, RB1, SMAD4, CREBBP, ESR1, ERCC4

DNA-dependent ATPase activity2.54304e-167.3627

ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MISMATCH REPAIR CANCER SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, NEUROFIBROMATOSIS, TYPE 1, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, CHOROID PLEXUS PAPILLOMA

21

ATM, MSH6, ERCC3, ERCC2, WRN, MYC, PMS2, TP53, BRIP1, NF1, RAD54B, RTEL1, PCNA, BLM, SMARCA4, XRCC3, RAD51, MSH2, RECQL4, POLA1, POLE

protein binding, bridging5.43395e-065.5241

GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

27

NRAS, NF2, ERBB2, KRAS, AURKA, CBL, RB1CC1, POT1, PTEN, NTRK1, PTPN11, FGFR1, STAT3, MAP3K1, BRCA1, AKT1, FGFR2, TP53, MEN1, SOS1, HRAS, FASLG, PDGFRB, PAX3, ESR1, KIT, SH2D1A

collagen binding0.00302146.7624

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

14

FASLG, MMP1, IL6, IFNG, IL1B, TP53, SMAD4, MYC, STAT3, HRAS, PDGFB, CDH1, PDGFRB, COL7A1

4 iron, 4 sulfur cluster binding1.29351e-058.2312

FAMILIAL ADENOMATOUS POLYPOSIS 3, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADENOMAS, MULTIPLE COLORECTAL, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PARAGANGLIOMAS 4

10

ERCC2, NTHL1, BRIP1, MUTYH, RTEL1, SDHB, PCNA, POLE, POLD1, POLA1

bubble DNA binding0.014809910.994

BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME

4

WRN, POLD1, RECQL4, BLM

deoxyribonuclease activity0.011847.2719

CHOROID PLEXUS PAPILLOMA, MULIBREY NANISM, FAMILIAL ADENOMATOUS POLYPOSIS 3, ANDROGEN INSENSITIVITY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LI-FRAUMENI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, LYNCH SYNDROME I, ATAXIA-TELANGIECTASIA, MUIR-TORRE SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MISMATCH REPAIR CANCER SYNDROME, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

11

ATM, TRIM37, MLH1, RBBP8, TP53, AR, PCNA, NME1, NTHL1, ERCC4, MSH2

transferase activity, transferring phosphorus-containing groups1.24685e-332.79120

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, IMMUNODEFICIENCY 24, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

129

TSC2, MSH6, MYC, POT1, MYD88, BMPR1A, STK10, CYLD, PPARG, PRKAR1A, CTPS1, BTK, POLE, STK11, CDKN2A, TERT, FH, FGFR4, SMARCA4, PIK3CA, NBN, SOS1, SNAI2, TGFBR2, CREBBP, PDGFRB, FANCD2, NF2, ERBB2, MLH3, FGFR3, LIG4, RUNX1, FGFR2, CASP8, NME1, WRN, ERCC3, IL6, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, CBL, CCND1, MET, IFNG, NKX2-1, TGFBR1, EP300, RAD51, HIP1, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, HAX1, ACVR1B, GATA1, PDGFRL, DKC1, CTNNB1, CDKN3, SMAD4, ETV6, FOXO1, TJP2, VHL, KIF1B, BRCA1, AKT1, KRAS, KAT5, ASCL1, CARD11, TP53, PHOX2B, EPHB2, POLD1, CDH1, IL1B, RPS19, NF1, XRCC4, BRAF, AXIN1, KIT, TLR2, POLA1, AR, SMARCB1, AURKA, CHEK2, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, BCL10, ESR1, MAP3K1, INSR, DLC1, MSH2, TRIM28, TINF2, BAX, CDKN1B, PHB, PMS2, BDNF, RET, LZTS1, PTEN, HRAS, DCC, FASLG, CDK4, RNASEL, ATR, TSC1, TRIM37, MMP1, CORO1A

protein tyrosine phosphatase activity5.01049e-086.1729

MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LEPRECHAUNISM, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

SMARCA4, RUNX1, CDKN3, TLR4, PTPN11, PTPN12, PDGFRB, INSR, CDH1, CTNNB1, CBL, PARK2, TP53, MYC, EP300, AKT1, FASLG, ERBB2, PTPRJ, CREBBP, STAT3, KIT, PTEN

carboxylic acid binding0.0004051644.9637

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

30

TSC2, SMARCA4, TP53, MYC, SERPINA1, CREBBP, MYD88, IL6, IGF2R, PPARG, ESR1, CD82, AKT1, CDKN1B, BAX, KARS, TLR4, PCNA, EP300, RAD51, PTEN, HRAS, IL1B, ERBB2, POT1, ATR, STAT3, ACD, CTNNB1, RB1

ion transmembrane transporter activity0.001961713.3264

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, OCCIPITAL HORN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, OLMSTED SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

60

PCNA, TSC2, STIM1, ERBB2, PPARG, TSG101, TP53, RB1CC1, STX11, POT1, PTEN, CREBBP, AR, PIK3R2, AKT1, MYD88, RAD51, BMPR1A, TJP2, BAX, ATP7A, CORO1A, FGFR1, ESR1, PRKAR1A, PTPN11, SERPINA1, TRPV3, CDH1, PDGFRB, CTNNB1, SOS1, CCND1, BRAF, CDKN2A, RUNX1, IFNG, ABCC11, SLC25A13, MYC, TGFBR1, GATA2, EP300, FOXO1, DLC1, HRAS, CDK4, CDC73, KRAS, SMAD4, NKX2-1, ABCB11, BDNF, STAT3, ACVR1B, ODC1, F5, ACD, HAX1, MT-CO1

phosphoprotein phosphatase activity3.85231e-085.5434

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, NOONAN SYNDROME 4, LEPRECHAUNISM, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

29

SMARCA4, AURKA, CDKN3, TLR4, PTEN, GNAS, PPM1D, PTPN11, PTPN12, INSR, BMPR1A, CDH1, CTNNB1, SOS1, CBL, PARK2, RUNX1, TP53, MYC, EP300, RAD51, AKT1, FASLG, ERBB2, PTPRJ, CREBBP, STAT3, KIT, PDGFRB

glycosaminoglycan binding9.93251e-194.9156

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {?THYROID CANCER, NONMEDULLARY, 5}, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BIRT-HOGG-DUBE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ALAGILLE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PAPILLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

53

PCNA, SERPINC1, TGFBR1, PAX7, FGFR1, CTNNB1, AURKA, IL1B, MYC, FLCN, PTEN, HABP2, GNAS, PTPN11, ATM, TLR2, CCND1, CHEK2, PPARG, ESR1, COL7A1, BRCA1, CDH1, IFNG, KAT5, SOS1, FGFR4, FGFR2, MMP1, IL6, CDKN1B, AR, CASP8, NKX2-1, RB1CC1, RET, FOXO1, TP53, AKT1, HRAS, DCC, FASLG, CDK4, JAG1, RB1, IL1RN, BDNF, RSPO1, STAT3, TGFBR2, HMMR, ERBB2, PDGFB

pyrophosphatase activity1.98174e-153.2591

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ADRENAL CORTICAL CARCINOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

86

TSC2, BRCA2, MSH6, MYC, GNAS, MYD88, MLH1, HAX1, PRKAR1A, RECQL4, SOS1, PIK3CA, POLE, ERCC2, PDGFRB, CREBBP, MSH2, PTEN, ERBB2, MLH3, NME1, WRN, ERCC3, BUB1B, ABCC11, CBL, CCND1, MET, NTHL1, RAD54L, RAD51, KRAS, IFNG, STAT3, BRAF, SEPT9, TGFBR1, CTNNB1, SMAD4, KIF1B, AKT1, SMARCA4, AXIN1, ASCL1, PARK2, TP53, BRIP1, RAD54B, CDH1, MCM4, XRCC3, NF1, ABCB11, TNNT2, POLA1, DDX41, AR, KLF6, AURKA, CHEK2, TLR4, PIK3R2, ATM, RRAS2, ATP7A, DICER1, DKC1, INSR, DLC1, BLM, TRIM28, TRIM37, IL6, CDKN1B, PHB, PMS2, RTEL1, PCNA, HRAS, DCC, CDK4, RNASEL, NHP2, ATR, ESR1, TINF2

channel activity6.95333e-084.1960

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, RUBINSTEIN-TAYBI SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CARCINOID TUMORS, INTESTINAL, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

49

PCNA, TSC2, STIM1, ERBB2, TSG101, TP53, GJB2, DLC1, STX11, POT1, PTEN, NME1, PIK3R2, MYD88, PIK3CA, PTPN11, TJP2, BAX, CORO1A, IL6, PIK3CD, AKT1, CTNNB1, CCND1, SDHD, CDKN2A, IFNG, NKX2-1, SERPINA1, RB1CC1, GATA2, EP300, FOXO1, CDH1, HRAS, IL1B, CDK4, CDC73, KRAS, MYC, TRPV3, BDNF, CREBBP, STAT3, BRAF, F5, ACD, HAX1, MT-CO1

transcription regulatory region sequence-specific DNA binding3.50418e-164.2468

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SOTOS SYNDROME 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, PAPILLARY THYROID CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

62

PCNA, GATA1, MAD1L1, RET, PAX7, SMARCA4, TP53, MYC, POT1, SMAD4, AR, ETV6, GDNF, PTPN11, ATM, CREBBP, CDKN2A, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, IL6, BRCA1, BAP1, AKT1, TSG101, MSH2, TLR4, CCND1, MAX, FGFR2, CHEK2, MMP1, HOXB13, RUNX1, CDKN1B, IL1B, PHOX2B, BDNF, KAT5, LZTR1, SUFU, MEN1, EP300, FOXO1, PTEN, SMARCB1, DCC, CDKN1C, CDK4, IFNG, ERBB2, NKX2-1, NME1, STAT3, CASP8, TGFBR2, CTNNB1, RB1, PAX3

RNA polymerase II regulatory region sequence-specific DNA binding2.24749e-164.4365

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SOTOS SYNDROME 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

58

PCNA, GATA1, CHEK2, RET, PAX7, TSG101, TP53, MYC, SMAD4, CREBBP, AR, ETV6, GDNF, ATM, CDKN2A, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, IL6, BRCA1, BAP1, AKT1, SMARCA4, MSH2, TLR4, CCND1, FGFR2, MMP1, HOXB13, RUNX1, CDKN1B, IL1B, PHOX2B, NKX2-1, KAT5, LZTR1, SUFU, MEN1, EP300, FOXO1, PTEN, SMARCB1, MAX, CDKN1C, CDK4, IFNG, ERBB2, BDNF, NME1, STAT3, CASP8, TGFBR2, CTNNB1, RB1, PAX3

fibroblast growth factor-activated receptor activity1.09438e-0611.165

{PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC

4

FGFR1, FGFR2, FGFR3, FGFR4

regulatory region DNA binding8.60273e-183.7383

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SOTOS SYNDROME 1, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, ATAXIA-TELANGIECTASIA, THROMBOCYTOPENIA 5, LI-FRAUMENI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

78

PCNA, GATA1, MAD1L1, RET, PAX7, DKC1, TSG101, TP53, KARS, MYC, EP300, SMAD4, PTEN, AR, ASCL1, ETV6, POT1, TWIST1, PTPN11, ATM, SMARCB1, TERT, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, SUFU, IL6, BRCA1, BAP1, AKT1, BTK, MMP1, SMARCA4, MSH2, WT1, MAX, FGFR2, SMARCE1, CCND1, CDKN2A, RUNX1, CDKN1B, PHB, IL1B, PHOX2B, BDNF, KAT5, LZTR1, CHEK2, MEN1, TLR4, FOXO1, NME1, POLD1, CDH1, ZFHX3, DCC, GDNF, CDKN1C, CDK4, CDC73, SNAI2, TGFBR2, IFNG, RB1, NKX2-1, CREBBP, HOXB13, STAT3, CASP8, AXIN1, TINF2, CTNNB1, ERBB2, PAX3

purine ribonucleotide binding6.51733e-322.0151

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

165

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, NTHL1, CBL, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, IFNG, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

RNA polymerase II core promoter proximal region sequence-specific DNA binding1.68087e-165.1655

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

45

GATA1, MEN1, SMARCA4, TP53, MYC, SMAD4, AR, ETV6, GDNF, ATM, CDKN2A, GATA2, PPARG, ESR1, PLAG1, NSD1, BRCA1, AKT1, CTNNB1, MSH2, TLR4, CCND1, HOXB13, RUNX1, PAX7, PHOX2B, NKX2-1, KAT5, LZTR1, SUFU, RET, EP300, FOXO1, PTEN, SMARCB1, MAX, CHEK2, RB1, BDNF, CREBBP, STAT3, TGFBR2, BAP1, ERBB2, PAX3

RNA polymerase II core promoter sequence-specific DNA binding0.0004728667.4616

COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

12

MMP1, MET, PPARG, TP53, RUNX1, PCNA, MYC, ESR1, CREBBP, EP300, AKT1, SMARCA4

endopeptidase activity8.00647e-093.9663

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {?THYROID CANCER, NONMEDULLARY, 5}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DESMOID DISEASE, HEREDITARY, ADRENAL CORTICAL CARCINOMA, PAPILLARY THYROID CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, TYLOSIS WITH ESOPHAGEAL CANCER, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

55

SERPINC1, AR, PPARG, LIG4, AURKA, HLA-DQA1, MYC, STX11, POT1, PTEN, SMAD4, HABP2, FAS, NTRK1, CREBBP, CCND1, IGF2R, F5, VHL, ESR1, CDH1, MMP1, CTNNB1, KAT5, CBL, BRAF, CARD11, RUNX1, CDKN1B, PHB, FASLG, CASP8, RHBDF2, PCNA, PAX3, TGFBR1, IL6, TP53, APC, AKT1, HRAS, IL1B, SNAI2, IFNG, RB1, IL1RN, SERPINA1, NME1, ADA, STAT3, BAP1, TINF2, HFE, ERBB2, MYD88

receptor activator activity0.01226667.8916

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

9

SMARCE1, CCND1, IL6, ERBB2, STAT3, MYC, ESR1, AKT1, TP53

ribonucleotide binding4.28163e-321.99151

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

166

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, NTHL1, CBL, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, IFNG, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

protein C-terminus binding8.83322e-135.0455

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, MISMATCH REPAIR CANCER SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, OCCIPITAL HORN SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADRENAL CORTICAL CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, TUBEROUS SCLEROSIS-1, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

43

GATA1, ERBB2, VHL, SMARCA4, TP53, CHEK2, SMAD4, PTEN, BCL10, PIK3CA, PTPN11, TJP2, ERCC3, ATP7A, CORO1A, PPARG, STAT3, MAP3K1, BRCA1, CDH1, LIG4, MSH2, ESR1, CDKN2A, IFNG, RAD54B, PCNA, MYC, MEN1, EP300, RAD51, AKT1, HRAS, JAG1, ERCC2, PDGFRB, XRCC4, CREBBP, TSC1, AXIN1, CTNNB1, ERCC4, PDGFB

phospholipid binding2.63644e-064.2359

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, NEUROFIBROMATOSIS, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

46

FASLG, ERBB2, TSG101, TP53, MYC, SMAD4, PTEN, NME1, FAS, PIK3CA, PLA2G2A, PDGFRB, PPARG, ESR1, MAP3K1, INSR, PTPN11, SERPINA1, AKT1, CTNNB1, BTK, CCND1, CBL, PIK3CD, CDKN2A, RB1, PAX7, IL1B, TLR4, KIT, PCNA, CASP8, TGFBR1, IL6, FOXO1, SOS1, HRAS, TERT, NF1, POT1, CREBBP, STAT3, TGFBR2, ACD, TLR2, HIP1

phosphatase activity3.23023e-084.7843

ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, MULIBREY NANISM, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, CYLINDROMATOSIS, FAMILIAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

39

PTPRJ, MLH3, RUNX1, CDKN3, TLR4, PTEN, CHEK2, GNAS, AKT1, PPM1D, PTPN11, ATM, PTPN12, CYLD, PPARG, INSR, DLC1, SMARCA4, SOS1, CBL, PARK2, TP53, CASP8, MYC, LIG4, EP300, RAD51, CDH1, FASLG, ERCC2, TNNT2, ERBB2, XRCC4, CREBBP, STAT3, TRIM37, KIT, CTNNB1, PDGFRB

activating transcription factor binding0.0001293497.3622

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, IMMUNODEFICIENCY 21, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

13

GATA1, CCND1, CTNNB1, PPARG, ESR1, CREBBP, STAT3, SMARCA4, GATA2, EP300, CDH1, TP53, RB1

transcription coactivator activity2.63363e-134.566

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, CHOROID PLEXUS PAPILLOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

53

GATA1, BARD1, VHL, CTNNB1, AURKA, MYC, SMAD4, CREBBP, AR, MYD88, GDNF, ATM, ERCC3, CDKN2A, BCL10, GATA2, PPARG, ESR1, MAP3K1, BRCA1, CDH1, SMARCA4, AXIN1, AIP, MAX, TRIM28, SMARCE1, CCND1, IL6, RUNX1, CDKN1B, WT1, CASP8, STX11, KAT5, LZTR1, CHEK2, MEN1, EP300, TWIST1, TP53, AKT1, HRAS, DCC, CDK4, RB1, PAX3, ABCB11, STAT3, MSH2, WWOX, PTEN, SMARCB1

cytokine binding2.66152e-066.4134

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

20

FGFR2, IL1B, HAX1, IL6, PAX7, CDH1, IFNG, TP53, POT1, MYC, STAT3, PTEN, KAT5, TGFBR1, PIK3R2, KIT, PIK3CA, AKT1, TGFBR2, HRAS

hydrolase activity, acting on glycosyl bonds0.03171575.9622

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, FAMILIAL ADENOMATOUS POLYPOSIS 3, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ADENOMAS, MULTIPLE COLORECTAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, GAUCHER DISEASE, TYPE I, CHOROID PLEXUS PAPILLOMA

17

FASLG, HAX1, BAX, IL6, MYC, GBA, CD27, NTHL1, PCNA, CASP8, ESR1, CDH1, FGFR4, ACD, MUTYH, TP53, BTK

enzyme binding5.02323e-212.27141

BROOKE-SPIEGLER SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MULIBREY NANISM, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, RHABDOMYOSARCOMA, SOMATIC, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TUMOR PREDISPOSITION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

148

TSC2, BRCA2, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, BMPR1A, MLH1, CYLD, PPARG, DKC1, PRKAR1A, RECQL4, CTNNB1, BTK, STK11, CDKN2A, WT1, TERT, CASP8, MMP1, PIK3CA, NBN, SOS1, CDC73, ERCC2, JAG1, PDGFRB, CREBBP, MSH2, WWOX, BAP1, NF1, FANCD2, NF2, ERBB2, PTPRJ, KRAS, RUNX1, RB1CC1, LZTR1, NME1, WRN, ERCC3, BAX, BUB1B, IGF2R, CORO1A, PIK3CD, CBL, CCND1, MET, IFNG, NKX2-1, MEN1, EP300, RAD51, HMMR, MAX, HIP1, RB1, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, TSG101, SUFU, SMAD4, PPM1D, FOXO1, TJP2, UBE2T, HRAS, BRCA1, AKT1, SMARCA4, KAT5, CARD11, PARK2, AXIN2, TP53, EPHB2, TWIST1, CDH1, TINF2, IL1B, HAX1, RPS19, PTEN, IL1RN, PAX3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, SERPINC1, BARD1, AR, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, BCL10, PTPN11, ATM, PTPN12, RRAS2, GJB2, DICER1, ESR1, MAP3K1, INSR, SERPINA1, PDGFB, DLC1, KARS, BLM, TRIM28, ODC1, IL6, CDKN1B, PHB, BDNF, RET, APC, ZFHX3, DCC, FASLG, CDK4, ADA, ATR, TSC1, TGFBR2, TRIM37, HFE, SLC22A18

drug binding6.26225e-075.9931

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}

24

CTNNB1, MYC, SMAD4, CREBBP, AR, PTPN11, CCND1, GATA2, PPARG, STAT3, CDH1, SMARCA4, SOS1, IL6, BDNF, RB1CC1, EP300, PNP, AKT1, CDK4, RB1, CYP2D6, ESR1, ACD

phosphoric ester hydrolase activity2.2407e-104.2754

IMMUNODEFICIENCY 14, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DYSKERATOSIS CONGENITA, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CYLINDROMATOSIS, FAMILIAL, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?N SYNDROME, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

52

GATA1, PTPRJ, MLH3, RUNX1, CDKN3, DLC1, POT1, PTEN, CHEK2, TLR4, GNAS, PPM1D, PTPN11, ATM, PTPN12, IL6, CYLD, PPARG, DKC1, INSR, PIK3CD, CDH1, SMARCA4, KAT5, SOS1, CBL, ODC1, BAX, PARK2, TP53, FASLG, CASP8, MYC, LIG4, EP300, RAD51, AKT1, HRAS, IL1B, ERCC2, TNNT2, PDGFRB, XRCC4, PAX3, CREBBP, STAT3, BTK, TRIM37, KIT, CTNNB1, ERBB2, POLA1

chromatin DNA binding0.0007907347.3918

NEUROFIBROMATOSIS-NOONAN SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA

11

GATA1, CCND1, CTNNB1, NF1, MYC, ESR1, CREBBP, EP300, STAT3, TP53, KAT5

histone binding0.01965815.7426

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, ?N SYNDROME, BLOOM SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, WERNER SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYNCH SYNDROME I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA

18

SMARCA4, CCND1, MSH6, BLM, SMARCB1, RUNX1, PAX3, CREBBP, BTK, ESR1, POLA1, MYC, SNAI2, EP300, WRN, TP53, CDKN1B, KAT5

G-protein coupled receptor binding2.29699e-094.8351

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, DENYS-DRASH SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

41

SMARCA4, TP53, EPHB2, RUNX1, RSPO1, GNAS, PIK3CA, BMPR1A, CCND1, PPARG, ESR1, MAP3K1, INSR, PTPN11, BRCA1, CDH1, IFNG, BLM, WNT10A, BAX, PARK2, IL6, CDKN1B, WT1, FASLG, PCNA, KAT5, MYC, TGFBR1, EP300, GDNF, AKT1, HRAS, IL1B, CDK4, ERBB2, TLR4, STAT3, AXIN1, CTNNB1, PTEN

peptidase activity1.35378e-083.476

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {?THYROID CANCER, NONMEDULLARY, 5}, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NOONAN SYNDROME 4, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, PAPILLARY THYROID CARCINOMA, DESMOID DISEASE, HEREDITARY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, TYLOSIS WITH ESOPHAGEAL CANCER, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

69

FASLG, MAD1L1, TGFBR1, PPARG, SMARCA4, AURKA, SERPINC1, MYC, BRAF, POT1, PTEN, STX11, CREBBP, HABP2, FAS, AKT1, IGF2R, PIK3CA, ERCC3, CARD11, NTRK1, CYLD, VHL, ESR1, DKC1, SERPINA1, BAP1, CDH1, MMP1, CTNNB1, AXIN1, SOS1, CCND1, CBL, BRCA1, CDKN2A, RUNX1, CDKN1B, PHB, AR, CASP8, RHBDF2, PCNA, PAX3, LIG4, HLA-DQA1, IL6, FOXO1, TP53, APC, CDK4, HRAS, IL1B, CDC73, SNAI2, IFNG, ERBB2, IL1RN, SMAD4, NME1, ADA, STAT3, MYD88, KAT5, TINF2, F5, HFE, RB1, ACVR1B

cysteine-type peptidase activity0.01498325.6431

?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, TUMOR PREDISPOSITION SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, CYLINDROMATOSIS, FAMILIAL, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

18

FASLG, CYLD, ERCC3, CDKN2A, CCND1, IFNG, AURKA, PTEN, PPARG, CASP8, CDK4, PCNA, AR, IL6, BAP1, APC, TP53, AXIN1

metallopeptidase activity0.0270955.2534

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

CTNNB1, MYC, SERPINA1, AR, VHL, STAT3, CDH1, LIG4, SOS1, IL6, TP53, PHB, MMP1, SMARCA4, AKT1, HRAS, IL1B, SNAI2, ERBB2, SMAD4, ESR1, PTEN, ACVR1B

oxidoreductase activity3.1155e-133.2792

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CARCINOID TUMORS, INTESTINAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, ONCOCYTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LI-FRAUMENI SYNDROME, {BUDD-CHIARI SYNDROME}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 3, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PARAGANGLIOMAS 4, IMMUNODEFICIENCY 24, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

84

PCNA, FASLG, TSC2, BARD1, AR, MSH2, PAX7, PPARG, SMARCA4, TP53, SERPINC1, RB1CC1, NQO2, SDHD, CYP2D6, POT1, ATR, CHEK2, PLA2G2A, PIK3R2, AKT1, WRN, IDH1, ATM, IDH2, TERT, ATP7A, BLM, HAX1, WWOX, VHL, ERCC2, MAP3K1, SDHB, INSR, ERBB2, HRAS, PIK3CD, CTPS1, LZTR1, CTNNB1, AXIN1, CCND1, ESR1, TRIM28, BRCA1, BAX, MET, IL6, IFNG, NF1, TLR4, SDHC, SDHA, GNAS, BDNF, PAX3, MYC, RET, EP300, FOXO1, POLD1, RECQL4, SMARCB1, JAG1, TINF2, IL1B, CDK4, CDC73, SNAI2, RPS19, PTPN11, PTEN, SMAD4, CREBBP, MT-ND6, STAT3, CDH1, KAT5, BRAF, F5, HMMR, RB1, POLA1

anion binding1.36324e-281.57164

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, BIRT-HOGG-DUBE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, {THYROID CANCER, NONMEDULLARY, 4}, IMMUNODEFICIENCY 10, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, BREAST-OVARIAN CANCER, FAMILIAL 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

191

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, CD82, DKC1, PRKAR1A, IL6, CTPS1, CTNNB1, BTK, STK11, CDKN2A, WT1, IL1B, FH, TGFBR1, FGFR4, SMARCA4, PIK3CA, NBN, POLE, PTPRJ, CDC73, JAG1, TGFBR2, ERBB2, CREBBP, MSH2, BAP1, PTEN, FANCD2, SMARCB1, NF2, MLH3, FGFR3, LIG4, RUNX1, TRIM28, RB1CC1, DLC1, LZTR1, NME1, WRN, PLA2G2A, IDH2, ERCC3, HOXB13, BUB1B, IGF2R, GATA2, MLH1, FGFR1, ERCC2, PIK3CD, NTHL1, CBL, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, IFNG, RB1, ITK, PCNA, STAT3, FAH, FOXE1, ACD, SEPT9, ACVR1B, GATA1, STIM1, GPC3, VHL, TSG101, DDX41, CDKN3, RAD54L, SMAD4, SDHD, ETV6, FOXO1, PDGFRB, PNP, BRAF, UBE2T, SERPINC1, KIF1B, BRCA1, AKT1, RSPO1, KAT5, AIP, ASCL1, CARD11, PARK2, TINF2, KARS, BRIP1, PHOX2B, EPHB2, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, IL1RN, PAX3, ABCB11, TNNT2, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, BARD1, AR, CORO1A, KLF6, AURKA, CHEK2, TLR4, FLCN, PIK3R2, NTRK1, SDHA, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, EXT2, MAP3K1, INSR, SERPINA1, SOS1, TSC1, TP53, BLM, FGFR2, SEC23B, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, GDNF, FASLG, CDK4, RPS19, RNASEL, NHP2, TERT, ATR, ESR1, CDH1, CASP8, COL7A1, TRIM37, ODC1, MMP1, DICER1, PDGFB

sequence-specific DNA binding6.56264e-233.25109

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {THYROID CANCER, NONMEDULLARY, 4}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

103

MAD1L1, BRCA2, MSH6, TSC2, MYC, POT1, GNAS, BMPR1A, MLH1, PPARG, CDH1, CTNNB1, IKZF1, STK11, CDKN2A, WT1, CDKN1C, MMP1, PIK3CA, NBN, SNAI2, PDGFRB, CREBBP, BLM, BAP1, ERBB2, NF2, MLH3, FGFR3, KRAS, RUNX1, FGFR2, CASP8, LZTR1, AR, HOXB13, BUB1B, GATA2, FGFR1, PLAG1, IFNG, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, MAX, RB1, PCNA, STAT3, FOXE1, GATA1, TSG101, SUFU, SMAD4, ETV6, FOXO1, ZFHX3, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, AXIN2, MNX1, PHOX2B, TWIST1, POLD1, CDK4, MCM4, IL1B, PTEN, IL1RN, PAX3, RSPO1, NME1, SMARCB1, CHEK2, TLR4, PTPN11, ATM, NSD1, DKC1, TP53, MSH2, TRIM28, IL6, CDKN1B, BDNF, RET, APC, HRAS, DCC, GDNF, TERT, GTF2H5, ESR1, TGFBR2, TINF2

structure-specific DNA binding1.78182e-274.7486

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DESMOID DISEASE, HEREDITARY, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LI-FRAUMENI SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, {THYROID CANCER, NONMEDULLARY, 4}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

66

PCNA, GATA1, CYLD, BRCA2, NME1, MLH3, SMARCA4, TP53, IL1B, MYC, POT1, CREBBP, AR, WRN, AKT1, PTPN11, ATM, SMARCB1, MSH6, MLH1, ERCC4, PPARG, ESR1, INSR, IL6, MCM4, POLE, CTNNB1, MSH2, TRIM28, ASCL1, CCND1, MET, WT1, CDKN1B, LIG4, KARS, NF1, PMS2, NKX2-1, KAT5, PAX3, CHEK2, MEN1, GATA2, EP300, RAD51, APC, RECQL4, HRAS, MAX, TERT, CDK4, XRCC3, IFNG, RB1, SMAD4, ATR, BDNF, STAT3, CDH1, BLM, FOXE1, NTHL1, PTEN, POLA1

peptide binding0.001548734.8738

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

30

BARD1, HLA-DQA1, MYC, SMAD4, GNAS, PTPN11, ERCC3, CCND1, STAT3, INSR, AKT1, BTK, SOS1, ODC1, IL6, IFNG, IL1B, HLA-DQB1, MMP1, TGFBR1, EP300, HFE, HRAS, FASLG, PTEN, TLR4, CREBBP, ESR1, TINF2, TLR2

receptor regulator activity3.63929e-067.0825

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

16

CDKN1C, SMARCE1, IL6, CCND1, IFNG, CDKN1B, IL1RN, PCNA, MYC, ESR1, CDH1, CREBBP, GPC3, STAT3, AKT1, TP53

lyase activity2.8172e-055.536

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PROTEUS SYNDROME, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

24

UROD, CTNNB1, TP53, TSC2, MYC, POT1, GNAS, IL6, PRKAR1A, CDK4, IFNG, CCND1, CD27, PHB, FH, PCNA, RAD51, AKT1, HRAS, SMAD4, STAT3, CDH1, ODC1, NTHL1

magnesium ion binding0.0003740185.2234

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEUTZ-JEGHERS SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

26

CTNNB1, CHEK2, TLR4, NME1, WRN, BCL10, IDH1, IDH2, MYD88, MAP3K1, PRKAR1A, RECQL4, SMARCA4, POLE, CBL, STK11, PCNA, MYC, FOXO1, AKT1, HRAS, ERBB2, STAT3, ACD, BAP1, PTEN

transferase activity2.13624e-321.87159

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, GAUCHER DISEASE, TYPE I, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EXOSTOSES, MULTIPLE, TYPE 1, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, LYMPHOPROLIFERATIVE SYNDROME 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, {THYROID CANCER, NONMEDULLARY, 4}, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, IMMUNODEFICIENCY 24, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, BREAST-OVARIAN CANCER, FAMILIAL 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

181

TSC2, BRCA2, MSH6, MYC, MT-CO1, POT1, F5, FAS, MYD88, BMPR1A, PHOX2B, STK10, CYLD, PPARG, DKC1, PRKAR1A, CTPS1, CTNNB1, BTK, STK11, CDKN2A, PNP, IL1B, FH, FGFR4, SMARCA4, PIK3CA, NBN, POLE, PTPRJ, CDC73, SNAI2, JAG1, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, PCNA, NF2, ERBB2, MLH3, FGFR3, LIG4, RUNX1, TRIM28, RB1CC1, DLC1, LZTR1, NME1, GPC3, WRN, ERCC3, BAX, BUB1B, IGF2R, GATA2, MLH1, FGFR1, PIK3CD, IFNG, ESR1, CBL, SMARCE1, CCND1, MET, CD27, GJB2, NKX2-1, MEN1, EP300, RAD51, MAX, HIP1, KRAS, TNNT2, RB1, ITK, STX11, STAT3, FAH, FOXE1, ACD, HAX1, ACVR1B, GATA1, TGFBR1, PDGFRL, CDK4, VHL, TSG101, SERPINC1, SUFU, SMAD4, EXT1, ETV6, PPM1D, FOXO1, TJP2, APC, UBE2T, KIF1B, BRCA1, AKT1, RSPO1, KAT5, AIP, SDHD, ASCL1, CARD11, PARK2, AXIN2, TP53, HMBS, EPHB2, TWIST1, POLD1, RECQL4, TINF2, CDKN1C, RPS19, NF1, XRCC4, ABCB11, BRAF, AXIN1, CDKN3, KIT, TLR2, POLA1, NRAS, BARD1, AR, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, ATP7A, BCL10, NSD1, TSC1, MAP3K1, TGFBR2, INSR, WNT10A, SOS1, BLM, FGFR2, SEC23B, IL6, GBA, CDKN1B, PHB, RNF6, PMS2, BDNF, RAD54B, RET, LZTS1, HRAS, DCC, FASLG, MTAP, RNASEL, TERT, ATR, EXT2, CDH1, CASP8, COL7A1, TRIM37, ODC1, MMP1, CORO1A, PDGFB

guanyl ribonucleotide binding3.01184e-094.0859

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

51

TSC2, NF2, PAX7, SMARCB1, AURKA, NRAS, MYC, SMAD4, CREBBP, NME1, PIK3CA, PIK3R2, MYD88, GNAS, ATM, ERCC3, IL6, SEPT9, ESR1, INSR, PRKAR1A, BAP1, CDH1, SMARCA4, AXIN1, SOS1, CCND1, TRIM28, ASCL1, BRAF, CDKN2A, PARK2, CDKN1B, PCNA, CHEK2, TGFBR1, RRAS2, FOXO1, TP53, AKT1, HRAS, DCC, KRAS, IFNG, ERBB2, STX11, ATR, STAT3, RAD51, TINF2, TLR2

calcium ion binding2.04829e-113.1286

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, CITRULLINEMIA, ADULT-ONSET TYPE II, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {BUDD-CHIARI SYNDROME}, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ALAGILLE SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, THROMBOCYTOPENIA 5, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

85

PCNA, GATA1, TSC2, STIM1, ERBB2, IL1RN, TSG101, SUFU, EXT2, CBL, MMP1, DLC1, FAS, POT1, PTEN, AR, SNAI2, PTPN11, NF2, GNAS, MYD88, FOXO1, KLF6, ERCC4, ATM, PTPN12, TLR4, SMARCA4, CCND1, MLH1, CORO1A, PPARG, INSR, CD82, PIK3CA, PLA2G2A, SERPINA1, PRKAR1A, AKT1, IL6, CTNNB1, AXIN1, SOS1, FGFR4, ESR1, FGFR2, FGFR1, PIK3CD, CARD11, MET, AURKA, IFNG, RB1CC1, RUNX1, SLC25A13, KAT5, PAX3, CASP8, TGFBR1, RET, GDNF, TP53, APC, CDH1, HRAS, ETV6, DCC, IL1B, CDK4, JAG1, KRAS, MYC, TNNT2, SMAD4, FGFR3, BDNF, CREBBP, BRAF, STAT3, PTPRJ, PDGFB, TINF2, F5, HAX1, POLA1

protease binding2.29045e-076.4632

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

21

SERPINC1, BRCA2, CARD11, JAG1, MYC, PARK2, RB1, TP53, IL1B, PHB, INSR, CASP8, KIT, SERPINA1, BCL10, CBL, IL6, AKT1, BAX, IFNG, PDGFB

protein complex binding6.18734e-242.91118

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ADENOMAS, MULTIPLE COLORECTAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, SHWACHMAN-DIAMOND SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BIRT-HOGG-DUBE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, IMMUNODEFICIENCY 10, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

116

TSC2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, MLH1, HAX1, PPARG, CD82, PRKAR1A, CDK4, TSG101, BTK, STK11, CDKN2A, MMP1, PIK3CA, SOS1, CDC73, JAG1, PDGFRB, MUTYH, CREBBP, NF1, NF2, ERBB2, KRAS, RB1CC1, FLCN, AR, WRN, BUB1B, GATA2, FGFR1, COL7A1, PIK3CD, CBL, CCND1, IFNG, TGFBR1, EP300, RAD51, MAX, RB1, PCNA, STAT3, SEC23B, ACD, ACVR1B, GATA1, STIM1, GPC3, CTNNB1, SMAD4, SBDS, FOXO1, TJP2, VHL, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, TP53, CASP8, RECQL4, IL1B, PTEN, PTPRJ, LZTR1, AXIN1, KIT, TLR2, NRAS, NME1, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, BCL10, PTPN11, ATM, PTPN12, ERCC4, DKC1, MAP3K1, INSR, WNT10A, DLC1, KARS, FGFR2, BRAF, IL6, CDKN1B, BDNF, SERPINA1, RET, APC, HRAS, GDNF, FASLG, ATR, ESR1, CDH1, TGFBR2, TINF2, CORO1A, PDGFB

double-stranded DNA binding1.9248e-235.8756

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, FAMILIAL ADENOMATOUS POLYPOSIS 3, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, DESMOID DISEASE, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MISMATCH REPAIR CANCER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {THYROID CANCER, NONMEDULLARY, 4}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

44

PCNA, MSH6, MLH3, TP53, MYC, SMAD4, CREBBP, AR, ATM, IL6, MLH1, GATA2, PPARG, ESR1, CDH1, SMARCA4, MSH2, ASCL1, CCND1, WT1, CDKN1B, KARS, PMS2, NKX2-1, MEN1, EP300, RAD51, APC, AKT1, SMARCB1, MAX, IL1B, CDK4, XRCC3, IFNG, RB1, BDNF, ATR, STAT3, KAT5, FOXE1, NTHL1, CTNNB1, PTEN

copper ion binding0.03542656.8623

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 21, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {BUDD-CHIARI SYNDROME}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

12

CDK4, CCND1, IL6, ATP7A, PAX7, RB1, MYC, IFNG, F5, GATA2, AKT1, TP53

retinoid binding0.03997227.6812

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SMALL CELL CANCER OF THE LUNG, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, PROTEUS SYNDROME, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

9

IL1B, RB1, PPARG, MYC, ESR1, CREBBP, ACD, AKT1, IGF2R

transferase activity, transferring acyl groups other than amino-acyl groups0.004042365.5333

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA

22

BRCA2, PPARG, TSG101, MYC, SMAD4, ATM, VHL, SMARCA4, KAT5, SMARCE1, IL6, TP53, PCNA, EP300, POLD1, IL1B, CDC73, RB1, CREBBP, ESR1, CTNNB1, POLA1

substrate-specific transmembrane transporter activity0.0002570643.2169

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CARNEY COMPLEX, TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, OCCIPITAL HORN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, OLMSTED SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CARCINOID TUMORS, INTESTINAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

66

PCNA, TSC2, STIM1, ERBB2, PPARG, TSG101, TP53, RB1CC1, STX11, POT1, PTEN, CREBBP, AR, PIK3R2, AKT1, MYD88, RAD51, BMPR1A, TJP2, CCND1, ATP7A, CORO1A, FGFR1, ESR1, MET, PRKAR1A, PTPN11, SERPINA1, TRPV3, CDH1, PDGFRB, CTNNB1, SOS1, RUNX1, SDHD, BRAF, CDKN2A, SLC25A13, IL6, IFNG, ABCC11, NKX2-1, MYC, TGFBR1, GATA2, EP300, FOXO1, DLC1, HRAS, POLE, IL1B, CDK4, CDC73, KRAS, TNNT2, SMAD4, BDNF, ABCB11, STAT3, BAX, ACVR1B, ODC1, F5, ACD, HAX1, MT-CO1

peptidase inhibitor activity5.33099e-075.2142

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DESMOID DISEASE, HEREDITARY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

32

SERPINC1, VHL, SMARCA4, AURKA, MYC, SERPINA1, PTEN, MYD88, ERCC3, BAX, MXI1, FGFR1, ESR1, MAP3K1, CDH1, CDKN1B, CCND1, SPINK1, CD27, PCNA, CASP8, GPC3, IL6, TP53, APC, AKT1, IL1B, RB1, CREBBP, STAT3, ERBB2, COL7A1

platelet-derived growth factor receptor binding0.03621449.768

MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, NOONAN SYNDROME 4, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

5

PDGFRB, PTEN, PTPRJ, SOS1, PDGFB

N-acyltransferase activity0.0002473776.8428

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?N SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA

15

ATM, CREBBP, BRCA2, TP53, VHL, ESR1, MYC, SMAD4, KAT5, SMARCA4, EP300, SMARCE1, POLD1, RB1, POLA1

amide binding0.001882184.8538

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

30

BARD1, MYC, POT1, GNAS, PTPN11, ERCC3, HFE, STAT3, INSR, IL6, SOS1, BTK, HLA-DQA1, CCND1, IFNG, IL1B, TLR4, HLA-DQB1, MMP1, TGFBR1, EP300, AKT1, HRAS, FASLG, PTEN, SMAD4, CREBBP, ESR1, ODC1, TLR2

ion channel activity8.74412e-054.3250

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ADRENAL CORTICAL CARCINOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

40

PCNA, TSC2, STIM1, TSG101, TP53, RB1CC1, STX11, POT1, PTEN, F5, PIK3R2, AKT1, MYD88, PTPN11, TJP2, BAX, HAX1, SERPINA1, DLC1, CTNNB1, CCND1, CDKN2A, IFNG, NKX2-1, MYC, GATA2, EP300, FOXO1, CDH1, HRAS, CDK4, CDC73, KRAS, TRPV3, BDNF, CREBBP, STAT3, BRAF, ACD, ERBB2

cation transmembrane transporter activity0.001402753.7156

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, OCCIPITAL HORN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

51

PCNA, TSC2, STIM1, ERBB2, FGFR1, CTNNB1, TP53, MYC, DLC1, STX11, SMAD4, PTEN, CREBBP, AR, MYD88, RAD51, BMPR1A, TJP2, PDGFRB, ATP7A, CORO1A, PPARG, ESR1, PRKAR1A, PTPN11, SERPINA1, CDH1, KRAS, SOS1, BRAF, CCND1, RUNX1, IFNG, NKX2-1, RB1CC1, TGFBR1, GATA2, FOXO1, AKT1, HRAS, CDK4, CDC73, TRPV3, BDNF, ABCB11, STAT3, ACVR1B, ODC1, ACD, HAX1, MT-CO1

DNA secondary structure binding0.00027686210.168

WERNER SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MUIR-TORRE SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BLOOM SYNDROME, MISMATCH REPAIR CANCER SYNDROME

6

WRN, BLM, MEN1, RECQL4, RAD51, MSH2

lipid binding2.38132e-083.2982

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLIOMA SUSCEPTIBILITY 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LI-FRAUMENI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, NEUROFIBROMATOSIS, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RUBINSTEIN-TAYBI SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, CHOROID PLEXUS PAPILLOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, LYNCH SYNDROME I, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

75

GATA1, FASLG, SERPINC1, NF2, ERBB2, FGFR1, SMARCA4, TP53, FGFR2, MYC, DLC1, POT1, SMAD4, AR, FAS, BARD1, GNAS, IGF2R, GDNF, PLA2G2A, CREBBP, PHB, TERT, TLR4, MYD88, HAX1, PPARG, ESR1, MAP3K1, PCNA, INSR, PIK3CA, IL6, PIK3CD, AKT1, BTK, PDGFRB, TSG101, KAT5, SOS1, CCND1, CBL, CDKN2A, RB1, CDKN1B, RUNX1, KARS, NF1, PMS2, TGFBR1, KIT, BDNF, EPHB2, MEN1, EP300, FOXO1, CDH1, HRAS, IL1B, HIP1, KRAS, TLR2, IFNG, PTEN, SERPINA1, NME1, STAT3, BAX, CASP8, TGFBR2, PTPN11, ACD, CTNNB1, CORO1A, PAX3

actin filament binding0.001204156.4823

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DYSKERATOSIS CONGENITA, X-LINKED, IMMUNODEFICIENCY 8, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

15

DCC, CBL, CORO1A, DKC1, PTEN, VHL, ESR1, MYC, PTPN12, STAT3, CDH1, PIK3CD, AKT1, ERCC4, HRAS

SH3 domain binding4.5894e-055.7935

NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, CARNEY COMPLEX, TYPE 1, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CHOROID PLEXUS PAPILLOMA

23

TGFBR1, SMARCA4, POT1, PTPN11, PTPN12, BAX, MAP3K1, PRKAR1A, AKT1, BTK, SOS1, CBL, IL6, TP53, PCNA, RET, EP300, CDH1, DCC, ITK, ATR, STAT3, TINF2

RNA polymerase II transcription cofactor activity0.01110436.5921

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, ANDROGEN INSENSITIVITY, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, EMBERGER SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 21, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

14

MAX, GATA1, SMARCA4, RBBP8, TP53, PPARG, ESR1, MYC, SMAD4, CREBBP, AR, GATA2, EP300, CTNNB1

cyclin-dependent protein serine/threonine kinase inhibitor activity6.69653e-059.7613

{MELANOMA, CUTANEOUS MALIGNANT, 3}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BREAST-OVARIAN CANCER, FAMILIAL 1, BECKWITH-WIEDEMANN SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PANCREATIC CANCER/MELANOMA SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

6

CDKN1C, CDKN2A, CDKN1B, SMAD4, BRCA1, CDK4

substrate-specific transporter activity0.001568132.9774

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CARNEY COMPLEX, TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, OCCIPITAL HORN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, OLMSTED SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CARCINOID TUMORS, INTESTINAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

72

PCNA, TSC2, STIM1, ERBB2, PAX7, PPARG, TSG101, TP53, RB1CC1, EP300, SMAD4, PTEN, CREBBP, SDHD, PTPN11, PIK3R2, AKT1, MYD88, GNAS, BMPR1A, TJP2, BAX, ATP7A, CORO1A, FGFR1, ESR1, MET, PRKAR1A, IL6, SERPINA1, CDH1, PDGFRB, CTNNB1, KAT5, SOS1, CCND1, BRAF, CDKN2A, SLC25A13, RUNX1, IFNG, PHB, AR, ABCC11, NKX2-1, RAD51, SFTPA1, TGFBR1, GATA2, POT1, FOXO1, DLC1, HRAS, POLE, IL1B, CDK4, CDC73, KRAS, MYC, TNNT2, TRPV3, STX11, ABCB11, BDNF, STAT3, ACVR1B, ODC1, F5, ACD, MMP1, HAX1, MT-CO1

cofactor binding1.18587e-064.6648

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLIOMA SUSCEPTIBILITY 1, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, PARAGANGLIOMAS 5, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ALAGILLE SYNDROME, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {THYROID CANCER, NONMEDULLARY, 4}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PARAGANGLIOMAS 4, CARCINOID TUMORS, INTESTINAL, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, IMMUNODEFICIENCY 24, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHOROID PLEXUS PAPILLOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

39

CTNNB1, TP53, MYC, POT1, SDHD, FAS, SDHA, AKT1, IDH1, IDH2, WWOX, SDHB, CTPS1, SMARCB1, KAT5, TLR4, TINF2, CDKN2A, IFNG, PHB, RB1CC1, PCNA, CHEK2, EP300, FOXO1, POLD1, CDH1, HRAS, IL1B, CDK4, CDC73, JAG1, ERBB2, BDNF, BRAF, ESR1, FOXE1, RB1, POLA1

DNA polymerase activity0.04515018.0310

{PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DYSKERATOSIS CONGENITA, X-LINKED, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}

7

TERT, PCNA, DKC1, RAD51, POLD1, POLE, POLA1

endopeptidase inhibitor activity3.65588e-065.2639

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, PROTEUS SYNDROME, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DESMOID DISEASE, HEREDITARY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

30

SERPINC1, VHL, SMARCA4, AURKA, MYC, SERPINA1, PTEN, MYD88, BAX, MXI1, FGFR1, ESR1, MAP3K1, CDKN1B, AKT1, TP53, CCND1, SPINK1, CD27, PCNA, CASP8, IL6, APC, CDH1, IL1B, RB1, CREBBP, STAT3, ERBB2, COL7A1

hormone receptor binding1.10349e-095.5546

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SOTOS SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ALAGILLE SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, IMMUNODEFICIENCY 24, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {GLIOMA SUSCEPTIBILITY 9}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

32

VHL, CTNNB1, MYC, SMAD4, CREBBP, AR, GNAS, PTPN11, RNF6, ERCC3, NSD1, PPARG, ESR1, CDKN1B, INSR, PIK3CD, CTPS1, SMARCA4, KAT5, IKZF1, BRCA1, IL6, TP53, TLR4, EP300, AKT1, JAG1, RB1, POT1, ABCB11, STAT3, PTEN

monocarboxylic acid binding0.003099996.9720

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PROTEUS SYNDROME, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

13

IL1B, IGF2R, TP53, PPARG, ESR1, MYC, POT1, CREBBP, SMARCA4, ACD, AKT1, MYD88, RB1

nucleoside-triphosphatase regulator activity0.0004764014.451

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, GLIOMA SUSCEPTIBILITY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, NEUROFIBROMATOSIS, TYPE 1, MULIBREY NANISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, NOONAN SYNDROME 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

37

TSC2, NF2, CTNNB1, AXIN2, MYC, POT1, PTEN, AR, FAS, GNAS, PIK3CA, HAX1, MAP3K1, INSR, PIK3CD, DLC1, TSG101, AXIN1, SOS1, CARD11, PARK2, TP53, CASP8, EPHB2, TGFBR1, GDNF, APC, AKT1, HRAS, IL1B, KRAS, NF1, TLR4, ATR, TSC1, TRIM37, ERBB2

hormone binding0.04542296.8325

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

12

AR, TP53, PPARG, ESR1, MYC, SMAD4, TGFBR1, STAT3, AKT1, PTEN, HRAS, INSR

nuclease activity5.11495e-075.3837

PROSTATE CANCER 1, ATAXIA-TELANGIECTASIA, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PLEUROPULMONARY BLASTOMA, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MULIBREY NANISM, MUIR-TORRE SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, WERNER SYNDROME, FAMILIAL ADENOMATOUS POLYPOSIS 3, ROTHMUND-THOMSON SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, LYNCH SYNDROME I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ADRENAL CORTICAL CARCINOMA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CHOROID PLEXUS PAPILLOMA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

30

NME1, LIG4, MYC, AR, WRN, ATM, MLH1, RBBP8, ERCC4, PPARG, DKC1, INSR, RECQL4, NTHL1, BLM, TP53, PMS2, SLC25A13, RAD51, POLD1, AKT1, RNASEL, TGFBR2, XRCC4, PCNA, STAT3, TRIM37, TLR2, DICER1, POLA1

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription5.08312e-096.236

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

25

GATA1, AR, SMARCA4, SUFU, SMAD4, CHEK2, ETV6, GDNF, PPARG, STAT3, AKT1, CCND1, TP53, NKX2-1, MYC, FOXO1, PTEN, CDK4, SNAI2, ERBB2, PCNA, CREBBP, ESR1, RB1, PAX3

ubiquitin protein ligase binding6.84029e-155.6145

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, 46XY SEX REVERSAL 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHABDOMYOSARCOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP T, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ADRENAL CORTICAL CARCINOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

38

NF2, SLC22A18, SMARCA4, AXIN2, MYC, AR, FAS, BCL10, PTPN11, ATM, IL6, BLM, UBE2T, MAP3K1, PRKAR1A, BRCA1, AKT1, TSG101, AXIN1, TRIM28, TRIM37, CCND1, PARK2, AURKA, TP53, CASP8, PCNA, CHEK2, FOXO1, APC, PTEN, FASLG, RB1, ACVR1B, ODC1, CTNNB1, PDGFRB, FANCD2

isomerase activity0.01790125.3931

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, DYSKERATOSIS CONGENITA, X-LINKED, ADRENAL CORTICAL CARCINOMA, PROTEUS SYNDROME, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYNCH SYNDROME I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GLIOMA SUSCEPTIBILITY 9}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

21

IL1B, MSH6, KRAS, IL6, CDKN2A, MYC, PAX7, PPARG, TP53, PHB, PCNA, ABCB11, ESR1, DKC1, PAX3, PLA2G2A, TINF2, POT1, AKT1, CTNNB1, PTPN11

protein N-terminus binding7.65964e-126.3533

ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, RUBINSTEIN-TAYBI SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, NIJMEGEN BREAKAGE SYNDROME, MULIBREY NANISM, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, XERODERMA PIGMENTOSUM, GROUP D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

27

TSC2, BARD1, SMARCA4, AURKA, MYC, AR, ATM, ERCC3, HAX1, AKT1, TSG101, KAT5, CBL, SMARCE1, IL6, TP53, BDNF, CHEK2, MEN1, NBN, HRAS, ERCC2, ERBB2, CREBBP, TSC1, TRIM37, ERCC4

adenyl nucleotide binding1.60208e-332.22148

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

157

MAD1L1, BRCA2, MSH6, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, CTPS1, BTK, STK11, CDKN2A, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, IL6, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, HAX1, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, DDX41, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

organic acid binding0.0004354174.9537

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

30

TSC2, SMARCA4, TP53, MYC, SERPINA1, CREBBP, MYD88, IL6, IGF2R, PPARG, ESR1, CD82, AKT1, CDKN1B, BAX, KARS, TLR4, PCNA, EP300, RAD51, PTEN, HRAS, IL1B, ERBB2, POT1, ATR, STAT3, ACD, CTNNB1, RB1

endonuclease activity0.0007934856.221

SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PROSTATE CANCER 1, ATAXIA-TELANGIECTASIA, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, FAMILIAL ADENOMATOUS POLYPOSIS 3, ROTHMUND-THOMSON SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PLEUROPULMONARY BLASTOMA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, BURKITT LYMPHOMA, BLOOM SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULIBREY NANISM, LYNCH SYNDROME I, MISMATCH REPAIR CANCER SYNDROME

18

ATM, TRIM37, RNASEL, RBBP8, TGFBR2, XRCC4, TLR2, PMS2, LIG4, PCNA, MYC, NME1, NTHL1, SLC25A13, RECQL4, DICER1, BLM, ERCC4

tetrapyrrole binding0.0009039545.7822

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, PARAGANGLIOMAS 3, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 5, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CARCINOID TUMORS, INTESTINAL, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

20

CBL, CREBBP, BARD1, SDHD, IL6, SDHA, MET, IFNG, CD82, CYP2D6, SDHC, ESR1, PTPN11, AR, GATA2, TLR4, AKT1, MYC, ERBB2, MT-CO1

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription4.53306e-134.8755

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, NIJMEGEN BREAKAGE SYNDROME, PAPILLARY THYROID CARCINOMA, MUIR-TORRE SYNDROME, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

45

GATA1, ERBB2, SMARCA4, TP53, CHEK2, SMAD4, AR, ETV6, CDKN2A, BUB1B, GATA2, PPARG, ESR1, PLAG1, PCNA, SUFU, IL6, BRCA1, AKT1, TSG101, MSH2, CCND1, ASCL1, HOXB13, RUNX1, PAX7, WT1, IL1B, NKX2-1, LZTR1, MYC, MEN1, EP300, GDNF, NBN, NSD1, CDKN1C, RB1, TLR4, CREBBP, STAT3, KAT5, CTNNB1, TGFBR2, PAX3

single-stranded DNA binding7.91904e-077.0329

ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MUIR-TORRE SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, LYNCH SYNDROME I, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GLIOMA SUSCEPTIBILITY 9}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}

17

ATM, TERT, MSH6, BRCA2, AR, MLH1, RAD51, MLH3, POT1, MYC, MCM4, PCNA, BLM, NME1, CDK4, ERCC4, POLA1

phosphotransferase activity, alcohol group as acceptor3.519e-343.2107

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, IMMUNODEFICIENCY 24, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

113

TSC2, FGFR4, POT1, MYD88, BMPR1A, STK10, HAX1, PPARG, PRKAR1A, CTPS1, BTK, SOS1, STK11, CDKN2A, NF1, FH, MYC, SMARCA4, PIK3CA, POLE, SNAI2, PDGFRB, CREBBP, ERBB2, NF2, FGFR3, LIG4, RUNX1, FGFR2, CASP8, NME1, ERCC3, BUB1B, IGF2R, GATA2, FGFR1, PIK3CD, CBL, CCND1, MET, NKX2-1, TGFBR1, EP300, RAD51, HIP1, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, ACVR1B, GATA1, PDGFRL, CTNNB1, CDKN3, SMAD4, ETV6, FOXO1, VHL, BRCA1, AKT1, KRAS, KAT5, ASCL1, CARD11, TP53, PHOX2B, EPHB2, POLD1, CDH1, IL1B, RPS19, PTEN, XRCC4, BRAF, AXIN1, KIT, TLR2, POLA1, AR, SMARCB1, AURKA, CHEK2, NTRK1, PTPN11, ATM, PTPN12, BCL10, TSC1, MAP3K1, INSR, DLC1, MSH2, TRIM28, TINF2, IL6, CDKN1B, PHB, BDNF, RET, HRAS, DCC, FASLG, CDK4, RNASEL, ATR, ESR1, TGFBR2, TRIM37, MMP1, CORO1A

acetyltransferase activity0.001573896.8326

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?N SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA

14

CREBBP, BRCA2, RB1, TSG101, VHL, ESR1, MYC, SMAD4, KAT5, SMARCA4, EP300, SMARCE1, TP53, POLA1

calmodulin binding0.0001303365.4942

TYROSINEMIA, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLIOMA SUSCEPTIBILITY 1, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, PAPILLARY THYROID CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

25

NF2, CTNNB1, MYC, POT1, GNAS, CORO1A, VHL, PRKAR1A, PIK3CD, CDH1, SMARCA4, SOS1, CCND1, PARK2, TP53, PCNA, PIK3CA, AKT1, RPS19, PTEN, BDNF, CREBBP, BRAF, HAX1, FAH

RNA binding2.94053e-092.56112

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SHWACHMAN-DIAMOND SYNDROME, {BUDD-CHIARI SYNDROME}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, IMMUNODEFICIENCY 24, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, {THYROID CANCER, NONMEDULLARY, 4}, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

104

MSH6, MYC, POT1, F5, MYD88, PPARG, WRAP53, CTPS1, BTK, STK11, CDKN2A, WT1, TERT, PIK3CA, NBN, CDC73, ERCC2, PDGFRB, CREBBP, BLM, BAP1, ERBB2, SMARCB1, LIG4, RUNX1, RB1CC1, LZTR1, NME1, WRN, ERCC3, CORO1A, PIK3CD, CBL, SMARCE1, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, KRAS, TNNT2, RB1, STAT3, FAH, FOXE1, COL7A1, GATA1, DKC1, CTNNB1, SMAD4, SBDS, PPM1D, FOXO1, VHL, BRCA1, AKT1, SMARCA4, KAT5, KARS, BRIP1, CASP8, POLD1, RECQL4, IL1B, RPS19, NF1, PAX3, AXIN1, POLA1, DDX41, BARD1, KLF6, AURKA, TLR4, SDHA, BCL10, DICER1, ESR1, INSR, POLE, TP53, MSH2, TRIM28, TINF2, IL6, CDKN1B, PHB, PCNA, RET, LZTS1, PTEN, HRAS, DCC, CDK4, RNASEL, NHP2, ATR, TSC1, CDH1, TRIM37, NOP10, PDGFB

receptor binding6.67743e-172.37121

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, LI-FRAUMENI SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?IMMUNODEFICIENCY 16, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GAUCHER DISEASE, TYPE I, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, BIRT-HOGG-DUBE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYMPHOPROLIFERATIVE SYNDROME 2, TUMOR PREDISPOSITION SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

135

FGFR4, POT1, F5, FAS, GNAS, MYD88, BMPR1A, HAX1, PPARG, RECQL4, CTNNB1, BTK, IKZF1, MMP1, CDKN2A, WT1, IL1B, CASP8, MYC, PIK3CA, RPS19, ERCC2, PDGFRB, CREBBP, WWOX, BAP1, ERBB2, NF2, FGFR3, RSPO1, RUNX1, RB1CC1, FLCN, AR, WRN, IDH1, ERCC3, BAX, GATA2, FGFR1, COL7A1, PIK3CD, PTCH2, CD27, CBL, SMARCE1, CCND1, MET, PAX7, EDN3, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, KRAS, IFNG, RB1, ITK, PCNA, STAT3, ACVR1B, GATA1, GPC3, PTPRJ, TSG101, SMAD4, GDNF, VHL, TG, BRCA1, AKT1, SMARCA4, KAT5, CARD11, PARK2, AXIN2, TP53, EPHB2, TWIST1, POLD1, CDH1, CDKN1C, XRCC3, PTEN, IL1RN, TLR4, ABCB11, AXIN1, KIT, HMMR, POLA1, NRAS, BARD1, NME1, AURKA, CHEK2, PAX3, PIK3R2, NTRK1, JAG1, PTPN11, ATM, PTPN12, BCL10, NSD1, DKC1, MAP3K1, INSR, WNT10A, SOS1, KARS, BLM, FGFR2, TINF2, IL6, GBA, CDKN1B, PHB, RNF6, BDNF, SERPINA1, RET, HRAS, DCC, FASLG, CDK4, ADA, NHP2, ESR1, TGFBR2, TRIM37, HFE, PDGFB

substrate-specific channel activity2.23828e-054.2851

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OLMSTED SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

42

PCNA, TSC2, STIM1, TSG101, TP53, RB1CC1, STX11, POT1, PTEN, F5, PIK3R2, AKT1, MYD88, PTPN11, TJP2, CDKN2A, HAX1, SERPINA1, DLC1, CTNNB1, CCND1, IL6, IFNG, NKX2-1, MYC, GATA2, EP300, FOXO1, CDH1, HRAS, IL1B, CDK4, CDC73, KRAS, BAX, TRPV3, BDNF, CREBBP, STAT3, BRAF, ACD, ERBB2

p53 binding2.37668e-117.528

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

19

SMARCA4, GATA1, CREBBP, STK11, CDKN2A, BLM, TP53, RUNX1, STAT3, MYC, ESR1, CDH1, AXIN1, AR, EP300, RAD51, RB1, KAT5, SMARCB1

damaged DNA binding4.23718e-058.0719

XERODERMA PIGMENTOSUM, GROUP B, CHOROID PLEXUS PAPILLOMA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, NIJMEGEN BREAKAGE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ATAXIA-TELANGIECTASIA, MUIR-TORRE SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MISMATCH REPAIR CANCER SYNDROME, ADRENAL CORTICAL CARCINOMA, LYNCH SYNDROME I, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

11

ATM, ERCC3, MSH6, RBBP8, TP53, PCNA, BRCA1, RAD51, NBN, ERCC4, MSH2

cytoskeletal protein binding1.2255e-123.0894

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EMBERGER SYNDROME, SHWACHMAN-DIAMOND SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, IMMUNODEFICIENCY 10, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

91

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, MLH1, RBBP8, SEPT9, PPARG, PRKAR1A, CDH1, CTNNB1, BTK, CDKN2A, SOS1, SBDS, CREBBP, WWOX, HIP1, NF2, ERBB2, KRAS, CASP8, LZTR1, NME1, MXI1, BUB1B, CORO1A, FGFR1, PIK3CD, CBL, CCND1, TGFBR1, EP300, FOXO1, TNNT2, STAT3, HAX1, GATA1, STIM1, TSG101, SMAD4, RAD51, TJP2, VHL, KIF1B, BRCA1, AKT1, SMARCA4, AXIN1, ASCL1, CARD11, PARK2, TP53, NF1, PAX3, KAT5, KIT, BARD1, AR, KLF6, AURKA, EPHB2, TLR4, PIK3R2, PTPN11, PTPN12, RRAS2, ERCC4, DKC1, DLC1, KARS, BLM, IL6, CDKN1B, BDNF, RET, APC, PTEN, HRAS, DCC, FASLG, ATR, ESR1, TINF2, GATA2

cargo receptor activity0.0001209886.5526

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, NOONAN SYNDROME 4, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

17

MSR1, CBL, IL6, CCND1, IFNG, CDKN1B, POT1, MYC, STAT3, PIK3CA, CREBBP, AR, SNAI2, SOS1, AKT1, PTEN, INSR

small conjugating protein ligase binding6.84029e-155.6145

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, 46XY SEX REVERSAL 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHABDOMYOSARCOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP T, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ADRENAL CORTICAL CARCINOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

38

NF2, SLC22A18, SMARCA4, AXIN2, MYC, AR, FAS, BCL10, PTPN11, ATM, IL6, BLM, UBE2T, MAP3K1, PRKAR1A, BRCA1, AKT1, TSG101, AXIN1, TRIM28, TRIM37, CCND1, PARK2, AURKA, TP53, CASP8, PCNA, CHEK2, FOXO1, APC, PTEN, FASLG, RB1, ACVR1B, ODC1, CTNNB1, PDGFRB, FANCD2

kinase regulator activity3.03151e-205.4763

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, PEUTZ-JEGHERS SYNDROME, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

44

ERBB2, RUNX1, MYC, POT1, AR, SMARCE1, PIK3R2, GDNF, PTPN11, ATM, CDKN2A, ESR1, INSR, PRKAR1A, BRCA1, AKT1, TP53, BTK, SOS1, CBL, STK11, TINF2, CCND1, MET, CDKN1B, FASLG, KIT, PCNA, IL6, PIK3CA, APC, PTEN, HRAS, CDKN1C, CDK4, CDC73, RB1, SMAD4, CREBBP, STAT3, TGFBR2, ODC1, ACD, PDGFRB

kinase activator activity9.37094e-066.9929

?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PEUTZ-JEGHERS SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

16

CCND1, CBL, STK11, PIK3CD, IL6, ERBB2, RUNX1, PCNA, MYC, STAT3, PTEN, CREBBP, TINF2, POT1, AKT1, PIK3CA

carbohydrate binding3.17141e-054.6249

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EXOSTOSES, MULTIPLE, TYPE 2, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ALAGILLE SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, LYNCH SYNDROME I, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADRENAL CORTICAL CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

37

TSC2, NF2, SFTPA2, CTNNB1, TP53, MYC, SMAD4, PTEN, CHEK2, IGF2R, PTPN11, ATM, CCND1, HAX1, VHL, EXT2, INSR, CDH1, KRAS, MSH2, IL6, KARS, FASLG, CASP8, SFTPA1, FOXO1, AKT1, HRAS, IL1B, SNAI2, JAG1, RB1, TLR4, ATR, STAT3, TLR2, ERBB2

mismatched DNA binding1.92049e-059.997

COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LYNCH SYNDROME I, MUIR-TORRE SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, BURKITT LYMPHOMA, MISMATCH REPAIR CANCER SYNDROME

7

MSH6, MLH1, MLH3, MYC, PCNA, PMS2, MSH2

protein kinase inhibitor activity3.9459e-087.125

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PANCREATIC CANCER/MELANOMA SYNDROME, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

16

ATM, FASLG, CDKN1C, CDK4, CDKN2A, PDGFRB, STAT3, CREBBP, ESR1, PRKAR1A, SMAD4, BRCA1, AKT1, BTK, CDKN1B, HRAS

bHLH transcription factor binding0.0005824258.413

SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME

9

ASCL1, SMAD4, ESR1, CREBBP, STAT3, AR, EP300, AKT1, TWIST1

enzyme activator activity2.95522e-133.8179

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PAPILLARY THYROID CARCINOMA, NEUROFIBROMATOSIS-NOONAN SYNDROME, OCCIPITAL HORN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP P, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PEUTZ-JEGHERS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

68

TSC2, NF2, MEN1, PPARG, CTNNB1, AXIN2, TRIM28, MYC, DLC1, SMAD4, PTEN, CREBBP, AR, PIK3CA, TLR4, ERBB2, NTRK1, GNAS, PTPN11, ERCC3, CDKN2A, ATP7A, MYD88, HAX1, FGFR1, ESR1, MAP3K1, PARK2, INSR, PRKAR1A, PIK3CD, AKT1, KRAS, AXIN1, SOS1, CCND1, CBL, STK11, TINF2, IL6, MET, RUNX1, CDKN1B, FASLG, CASP8, TGFBR1, BDNF, CHEK2, SLX4, POT1, GDNF, TP53, APC, CDH1, HRAS, IL1B, SNAI2, RB1, PCNA, ATR, BRAF, STAT3, BTK, ODC1, ACD, TLR2, NF1, PDGFB

signal transducer activity1.95756e-162.37112

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

129

MYC, POT1, F5, FAS, GNAS, IGF2R, BMPR1A, STK10, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, MMP1, CDKN2A, WT1, IL1B, CASP8, FGFR4, PIK3CA, SOS1, PDGFRB, CREBBP, HLA-DQA1, TGFBR2, PCNA, ERBB2, IL1RN, SMARCA4, RUNX1, FGFR2, RB1CC1, NME1, ERCC3, MYD88, GATA2, FGFR1, PIK3CD, PTCH2, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, KARS, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, SH2D1A, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, MEN1, PDGFRL, PTPRJ, TSG101, NRAS, SUFU, SMAD4, OPCML, ETV6, PPM1D, GDNF, VHL, KIF1B, AKT1, KRAS, KAT5, AIP, ASCL1, PARK2, TINF2, MNX1, FASLG, PHOX2B, EPHB2, CDK4, CDKN1C, NF1, FGFR3, PAX3, ADA, AXIN1, KIT, HMMR, RB1, POLA1, EDARADD, SERPINC1, AR, SMARCB1, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, GJB2, DKC1, MAP3K1, INSR, WNT10A, DLC1, TP53, BLM, TRIM28, BRAF, IL6, CDKN1B, PHB, STX11, RET, PTEN, HRAS, DCC, HLA-DQB1, CD27, ESR1, ODC1, HFE

iron-sulfur cluster binding0.0009635287.3613

FAMILIAL ADENOMATOUS POLYPOSIS 3, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADENOMAS, MULTIPLE COLORECTAL, BURKITT LYMPHOMA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PARAGANGLIOMAS 4

11

ERCC2, NTHL1, BRIP1, MUTYH, MYC, RTEL1, SDHB, PCNA, POLE, POLD1, POLA1

succinate dehydrogenase activity0.00012631412.166

CARCINOID TUMORS, INTESTINAL, PARAGANGLIOMAS 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PARAGANGLIOMAS 5, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 4

4

SDHD, SDHA, SDHB, SDHC

annealing activity0.037688910.74

BLOOM SYNDROME, ROTHMUND-THOMSON SYNDROME, ATAXIA-TELANGIECTASIA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

4

ATM, RECQL4, RAD54L, BLM

RNA polymerase II distal enhancer sequence-specific DNA binding8.75508e-087.2330

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CHOROID PLEXUS PAPILLOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

17

RUNX1, GDNF, SMARCA4, CDKN2A, CCND1, NKX2-1, RB1, TP53, PPARG, PAX3, MYC, ESR1, RET, EP300, CTNNB1, AKT1, GATA2

purine nucleoside binding1.66853e-322.01152

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

165

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, ADA, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

nucleoside binding5.97466e-332.01153

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

166

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, PNP, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, ADA, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

coenzyme binding0.000737115.2634

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, PARAGANGLIOMAS 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {THYROID CANCER, NONMEDULLARY, 4}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, IMMUNODEFICIENCY 24, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

26

CTNNB1, MYC, SDHA, AKT1, IDH1, IDH2, WWOX, STAT3, CTPS1, KAT5, FOXE1, CDKN2A, TP53, PHB, PCNA, EP300, FOXO1, POLD1, CDH1, HRAS, CDC73, ERBB2, ATR, ESR1, TINF2, RB1

metal cluster binding0.0009635287.3613

FAMILIAL ADENOMATOUS POLYPOSIS 3, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADENOMAS, MULTIPLE COLORECTAL, BURKITT LYMPHOMA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, ?N SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PARAGANGLIOMAS 4

11

ERCC2, NTHL1, BRIP1, MUTYH, MYC, RTEL1, SDHB, PCNA, POLE, POLD1, POLA1

guanyl nucleotide binding3.12399e-094.0859

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, XERODERMA PIGMENTOSUM, GROUP B, NEUROCUTANEOUS MELANOSIS, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

51

TSC2, NF2, PAX7, SMARCB1, AURKA, NRAS, MYC, SMAD4, CREBBP, NME1, PIK3CA, PIK3R2, MYD88, GNAS, ATM, ERCC3, IL6, SEPT9, ESR1, INSR, PRKAR1A, BAP1, CDH1, SMARCA4, AXIN1, SOS1, CCND1, TRIM28, ASCL1, BRAF, CDKN2A, PARK2, CDKN1B, PCNA, CHEK2, TGFBR1, RRAS2, FOXO1, TP53, AKT1, HRAS, DCC, KRAS, IFNG, ERBB2, STX11, ATR, STAT3, RAD51, TINF2, TLR2

receptor signaling protein activity1.21192e-185.7953

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

39

ERBB2, SMARCA4, TP53, MYC, SMAD4, PTEN, GNAS, PIK3CA, BMPR1A, STK10, FGFR1, ESR1, MAP3K1, INSR, PTPN11, PIK3CD, CDH1, CTNNB1, BTK, FGFR2, SMARCE1, CDKN1B, EPHB2, TGFBR1, RET, GDNF, AKT1, HRAS, FASLG, IFNG, RB1, FGFR3, POT1, STAT3, BRAF, KIT, TLR2, TGFBR2, ACVR1B

chromatin binding1.1551e-174.0183

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, FRASIER SYNDROME, ?N SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, MULIBREY NANISM, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SOTOS SYNDROME 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, DENYS-DRASH SYNDROME, IMMUNODEFICIENCY 14, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PEUTZ-JEGHERS SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, FANCONI ANEMIA, COMPLEMENTATION GROUP T, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ADRENAL CORTICAL CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LI-FRAUMENI SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

70

GATA1, MAD1L1, BARD1, MSH6, UBE2T, PPARG, SMARCA4, AURKA, MYC, EP300, SMAD4, PTEN, ATR, AR, SMARCE1, WRN, PTPN11, ATM, CREBBP, ERCC3, CCND1, MLH1, BUB1B, GATA2, VHL, ESR1, NSD1, RECQL4, MCM4, PIK3CD, BAP1, CDH1, IL6, MLH3, MSH2, POLE, RUNX1, MAX, STK11, BRCA1, CDKN2A, RB1, PAX7, WT1, PCNA, KAT5, LZTR1, CHEK2, MEN1, ASCL1, FOXO1, TP53, POLD1, AKT1, SMARCB1, DCC, TERT, CDK4, CDC73, SNAI2, ERBB2, PAX3, ABCB11, HOXB13, STAT3, BLM, TRIM37, CTNNB1, NF1, POLA1

transmembrane signaling receptor activity8.46367e-142.8594

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

100

MYC, POT1, FAS, GNAS, MYD88, BMPR1A, PPARG, CD82, PRKAR1A, CDH1, BTK, CDKN2A, WT1, FGFR4, PIK3CA, PDGFRB, CREBBP, HLA-DQA1, TGFBR2, PCNA, ERBB2, FGFR3, KRAS, RUNX1, CASP8, AR, IGF2R, GATA2, FGFR1, PIK3CD, PTCH2, IFNG, CBL, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, RB1, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, PDGFRL, PTPRJ, CTNNB1, SMAD4, OPCML, GDNF, VHL, AKT1, KAT5, ASCL1, PARK2, KARS, FASLG, EPHB2, TP53, CDK4, IL1B, NF1, IL1RN, ADA, AXIN1, KIT, HMMR, SERPINC1, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, DKC1, INSR, WNT10A, SOS1, MNX1, BLM, FGFR2, TINF2, IL6, EDARADD, STX11, RET, PTEN, HRAS, DCC, HLA-DQB1, CD27, ESR1, ODC1, MMP1

transporter activity4.72744e-052.6784

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, TUBEROUS SCLEROSIS 2, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, ADRENAL CORTICAL CARCINOMA, OCCIPITAL HORN SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHABDOMYOSARCOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OLMSTED SYNDROME, CITRULLINEMIA, ADULT-ONSET TYPE II, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CARCINOID TUMORS, INTESTINAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NEUROCUTANEOUS MELANOSIS, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

89

TSC2, MYC, MT-CO1, POT1, F5, GNAS, MYD88, PIK3CA, BMPR1A, HAX1, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, SOS1, CDKN2A, MMP1, SLC25A13, POLE, CDC73, PDGFRB, CREBBP, ERBB2, KRAS, RUNX1, RB1CC1, SERPINA1, NME1, IDH1, BAX, IGF2R, CORO1A, FGFR1, PIK3CD, TRPV3, IFNG, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, FOXO1, TNNT2, STX11, BDNF, STAT3, BRAF, ACD, ACVR1B, STIM1, TSG101, SFTPA1, SMAD4, SDHD, RAD51, TJP2, AKT1, KAT5, ASCL1, PARK2, TP53, CASP8, CDK4, IL1B, PTEN, ABCB11, NRAS, BARD1, AR, GJB2, PIK3R2, PTPN11, ATM, ATP7A, DLC1, BLM, IL6, ABCC11, PHB, PCNA, HRAS, FASLG, ESR1, SLC22A18, ODC1, GATA2, PDGFB

structural molecule activity7.28948e-113.4974

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 13, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, MULTIPLE ENDOCRINE NEOPLASIA IIB, PAPILLARY THYROID CARCINOMA, EXOSTOSES, MULTIPLE, TYPE 2, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ALAGILLE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

73

RAD51, NF2, ERBB2, PPARG, TSG101, AURKA, RB1CC1, DLC1, POT1, PTEN, CREBBP, FAS, PIK3R2, KRAS, MYD88, JAG1, KLF6, TJP2, TLR2, ERCC3, CDKN2A, HAX1, VHL, EXT2, MAP3K1, PARK2, KIF1B, PTPN11, PIK3CD, RPS29, AKT1, PDGFRB, SMARCA4, AXIN1, SOS1, CCND1, ESR1, CBL, FGFR1, BRCA1, IL6, MET, KARS, BRIP1, IL1B, CASP8, BDNF, MYC, RET, EP300, FOXO1, IFNG, CDH1, HRAS, ETV6, FASLG, SNAI2, RPS19, TNNT2, HIP1, SMAD4, ATR, EPHB2, BRAF, STAT3, KAT5, TINF2, ACD, CTNNB1, TP53, CORO1A, COL7A1, DICER1

transmembrane receptor protein serine/threonine kinase activity0.003135599.639

MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

5

ACVR1B, PTEN, TGFBR2, TGFBR1, BMPR1A

cyclin-dependent protein serine/threonine kinase regulator activity2.30273e-058.9120

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, ADRENAL CORTICAL CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BREAST-OVARIAN CANCER, FAMILIAL 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, BECKWITH-WIEDEMANN SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PANCREATIC CANCER/MELANOMA SYNDROME, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

8

CDKN1C, CDKN2A, CCND1, TP53, SMAD4, BRCA1, CDK4, CDKN1B

R-SMAD binding0.01657419.2511

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PROTEUS SYNDROME, SOMATIC

6

CTNNB1, RUNX1, SMAD4, MEN1, AKT1, AXIN1

I-SMAD binding0.00027686210.1611

OLIGODONTIA-COLORECTAL CANCER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ANDROGEN INSENSITIVITY

6

AR, CTNNB1, AXIN2, SMAD4, TGFBR1, AXIN1

receptor activity1.50148e-142.42108

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

123

MYC, POT1, FAS, GNAS, MYD88, BMPR1A, HAX1, PPARG, CD82, DKC1, PRKAR1A, CDH1, CTNNB1, BTK, MMP1, CDKN2A, WT1, CASP8, FGFR4, PIK3CA, SOS1, SNAI2, PDGFRB, CREBBP, WWOX, ERBB2, PCNA, NF2, FGFR3, KRAS, RUNX1, TRIM28, RB1CC1, SERPINA1, NME1, IGF2R, GATA2, FGFR1, PIK3CD, PTCH2, CD27, MCC, CBL, HLA-DQA1, CCND1, MET, PAX7, KARS, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, IFNG, SH2D1A, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, TNFRSF13B, MEN1, PDGFRL, PTPRJ, TSG101, NRAS, SUFU, SMAD4, OPCML, GDNF, VHL, BRCA1, AKT1, SMARCA4, KAT5, ASCL1, PARK2, MNX1, FASLG, EPHB2, CDK4, IL1B, NF1, IL1RN, PAX3, AXIN1, KIT, HMMR, RB1, EDARADD, SERPINC1, AR, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, MSR1, MAP3K1, INSR, WNT10A, DLC1, TP53, BLM, FGFR2, TINF2, IL6, CDKN1B, STX11, RET, PTEN, HRAS, DCC, HLA-DQB1, ADA, ESR1, TGFBR2, ODC1, HFE

repressing transcription factor binding9.83941e-067.4122

EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

14

MAX, CCND1, RBBP8, GATA2, RUNX1, STAT3, MYC, PCNA, SMAD4, SMARCA4, EP300, TP53, CTNNB1, KAT5

acetyl-CoA0.01621858.2319

ADRENAL CORTICAL CARCINOMA, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BREAST-OVARIAN CANCER, FAMILIAL 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CHOROID PLEXUS PAPILLOMA, {GLIOBLASTOMA 3}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

8

SMARCE1, TP53, MYC, CREBBP, EP300, BRCA2, SMARCA4, KAT5

transcription factor binding8.52103e-193.8681

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PITUITARY ADENOMA, PROLACTIN-SECRETING, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, PEUTZ-JEGHERS SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, SOTOS SYNDROME 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, NEUROFIBROMATOSIS-NOONAN SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, IMMUNODEFICIENCY 14, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, FRASIER SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME

74

PCNA, GATA1, AR, PPARG, SMARCA4, AURKA, FGFR2, MYC, EP300, POT1, PTEN, SMAD4, CHEK2, SMARCE1, IGF2R, TWIST1, PTPN11, ATM, CCND1, PHB, ERCC3, CDKN2A, RBBP8, BCL10, ERCC4, VHL, ESR1, NSD1, SUFU, PRKAR1A, IL6, PIK3CD, CDH1, CTNNB1, AXIN1, TLR4, AIP, CBL, STK11, BRCA1, HOXB13, MET, RB1, CDKN1B, WT1, NF1, CASP8, RUNX1, NKX2-1, KAT5, LZTR1, TSG101, MEN1, ASCL1, FOXO1, TP53, NBN, AKT1, HRAS, MAX, FASLG, CDK4, SNAI2, XRCC3, ERBB2, BDNF, CREBBP, STAT3, TGFBR2, MSH2, TINF2, GATA2, PAX3, SMARCB1

RNA polymerase II transcription coactivator activity0.0004931288.4315

CHOROID PLEXUS PAPILLOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, RUBINSTEIN-TAYBI SYNDROME, EMBERGER SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 21, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

9

CTNNB1, PPARG, CREBBP, ESR1, SMARCA4, GATA2, EP300, TP53, BMPR1A

hormone activity1.43566e-056.2736

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BURKITT LYMPHOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PAPILLARY THYROID CARCINOMA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

20

CDKN1C, RET, IL6, MYC, IL1B, TGFBR2, TG, STAT3, EDN3, CDKN1B, ESR1, PTEN, BMPR1A, TGFBR1, NKX2-1, FOXO1, AKT1, TP53, HRAS, INSR

interleukin-1 binding0.0083469211.166

{MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {GLIOMA SUSCEPTIBILITY 9}, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3

4

POT1, HAX1, F5, TINF2

tubulin binding4.06281e-084.753

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SHWACHMAN-DIAMOND SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, NEUROFIBROMATOSIS-NOONAN SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYNCH SYNDROME I, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, BREAST-OVARIAN CANCER, FAMILIAL 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

41

GATA1, MAD1L1, STIM1, ERBB2, MSH6, CTNNB1, AURKA, MYC, POT1, PTEN, CREBBP, NME1, FAS, BARD1, GNAS, MYD88, CCND1, MLH1, BUB1B, SEPT9, MXI1, KIF1B, BRCA1, DLC1, BTK, SMARCA4, AXIN1, CARD11, PARK2, TP53, LZTR1, EP300, FOXO1, APC, AKT1, NF1, TLR4, BRCA2, KAT5, TINF2, SBDS

gamma-catenin binding0.0008959329.9111

ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DESMOID DISEASE, HEREDITARY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

6

CTNNB1, PTPRJ, CREBBP, STAT3, CDH1, APC

S-adenosylmethionine-dependent methyltransferase activity0.006042536.1428

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SOTOS SYNDROME 1, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

17

SMARCA4, TRIM28, AR, RB1, CDKN1B, PCNA, MYC, NSD1, LIG4, EP300, ESR1, CREBBP, BRCA1, POT1, STAT3, TP53, HRAS

endopeptidase regulator activity2.29191e-065.2141

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CHOROID PLEXUS PAPILLOMA, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

31

SERPINC1, VHL, SMARCA4, AURKA, MYC, SERPINA1, PTEN, MYD88, BAX, MXI1, FGFR1, ESR1, MAP3K1, CDKN1B, CDH1, TP53, CCND1, SPINK1, CD27, PCNA, CASP8, IL6, APC, AKT1, IL1B, RB1, CREBBP, CDKN2A, STAT3, ERBB2, COL7A1

peptidase regulator activity9.36964e-094.951

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, PAPILLARY THYROID CARCINOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARNEY COMPLEX, TYPE 1, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

39

SERPINC1, FGFR1, SMARCA4, AURKA, MYC, SMAD4, PTEN, FAS, MYD88, ERCC3, BAX, MXI1, VHL, ESR1, MAP3K1, INSR, PRKAR1A, CDH1, CD27, CCND1, SPINK1, CDKN1B, PCNA, CASP8, GPC3, IL6, TP53, APC, AKT1, IL1B, RB1, SERPINA1, CREBBP, CDKN2A, STAT3, BRAF, TLR2, ERBB2, COL7A1

poly(A) RNA binding0.003891183.0590

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, MULTIPLE ENDOCRINE NEOPLASIA IIB, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {BUDD-CHIARI SYNDROME}, BURKITT LYMPHOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SHWACHMAN-DIAMOND SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {THYROID CANCER, NONMEDULLARY, 4}, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TUBEROUS SCLEROSIS-1, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY 24, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

69

GATA1, DDX41, RET, MSH6, PPARG, SMARCA4, AURKA, TRIM28, MYC, SMAD4, PTEN, DKC1, SBDS, NME1, ERCC2, WRN, KRAS, PIK3CA, CREBBP, ERCC3, CCND1, BLM, CORO1A, VHL, STAT3, SDHA, COL7A1, RECQL4, HRAS, CTPS1, KARS, AXIN1, POLE, ESR1, CBL, STK11, TINF2, CDKN2A, RAD51, RB1, CDKN1B, PHB, NKX2-1, KAT5, LZTR1, CASP8, MEN1, POT1, FOXO1, TP53, AKT1, SMARCB1, DCC, TERT, CDC73, RNASEL, RPS19, PDGFRB, PCNA, ATR, TSC1, CDH1, PDGFB, FOXE1, F5, BAP1, NHP2, POLA1, DICER1

nucleoside-triphosphatase activity7.77885e-163.3589

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, MISMATCH REPAIR CANCER SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ADRENAL CORTICAL CARCINOMA, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, XERODERMA PIGMENTOSUM, GROUP D, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

83

ABCC11, MLH3, TSC2, BRCA2, TGFBR1, MSH6, SMARCA4, CBL, CTNNB1, AURKA, DDX41, MYC, DLC1, SMAD4, PTEN, ATR, AR, PIK3R2, KRAS, MYD88, RAD51, ATM, CREBBP, RRAS2, PDGFRB, MLH1, BLM, BUB1B, HAX1, NTHL1, DKC1, PARK2, KIF1B, ERBB2, RNASEL, MCM4, PRKAR1A, RECQL4, KLF6, AXIN1, POLE, CCND1, ESR1, TRIM28, ASCL1, BRAF, WRN, MET, PHB, CDKN1B, BRIP1, NF1, RAD54B, ATP7A, RTEL1, GNAS, PCNA, CHEK2, RAD54L, IL6, ERCC3, PIK3CA, IFNG, AKT1, HRAS, DCC, CDK4, XRCC3, ERCC2, PMS2, NHP2, TLR4, ABCB11, NME1, STAT3, CDH1, MSH2, TINF2, SOS1, TP53, SEPT9, POLA1, DICER1

protein homodimerization activity3.19339e-263.04116

BROOKE-SPIEGLER SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, ICHTHYOSIS, X-LINKED, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LI-FRAUMENI SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, DIAMOND-BLACKFAN ANEMIA 1, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, XERODERMA PIGMENTOSUM, GROUP D, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

117

TSC2, BRCA2, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, CYLD, PPARG, CD82, PRKAR1A, RECQL4, CTNNB1, BTK, CDKN2A, TERT, CASP8, PIK3CA, CDC73, ERCC2, PDGFRB, CREBBP, BAP1, TGFBR2, PCNA, ERBB2, KRAS, RUNX1, TRIM28, RB1CC1, LZTR1, AR, WRN, IDH1, BAX, GDNF, GATA2, FGFR1, PIK3CD, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, RAD51, MAX, TNFRSF4, STS, RB1, BDNF, STAT3, BRAF, HAX1, RET, TSG101, SUFU, SMAD4, EXT1, FOXO1, VHL, BRCA1, AKT1, SMARCA4, KAT5, ASCL1, CARD11, KARS, BRIP1, EPHB2, TWIST1, CDH1, IL1B, RPS19, PTEN, PAX3, AXIN1, KIT, TLR2, BARD1, SMARCB1, CHEK2, TLR4, NTRK1, PTPN11, ATM, GJB2, BCL10, DICER1, EXT2, INSR, SOS1, TP53, MSH2, FGFR2, ODC1, IL6, CDKN1B, PHB, STX11, GPC3, HRAS, FASLG, CDK4, ADA, ATR, ESR1, TRIM37, HFE, CORO1A, PDGFB

signaling receptor activity2.12041e-142.6899

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

109

MYC, POT1, FAS, GNAS, MYD88, BMPR1A, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, MMP1, CDKN2A, WT1, FGFR4, PIK3CA, PDGFRB, CREBBP, HLA-DQA1, ERBB2, PCNA, IL1RN, KRAS, RUNX1, TRIM28, CASP8, AR, IGF2R, GATA2, FGFR1, PIK3CD, PTCH2, CD27, CBL, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, FOXO1, TLR2, TNFRSF4, IFNG, RB1, BDNF, STAT3, SEC23B, ACD, ACVR1B, GATA1, MEN1, PDGFRL, PTPRJ, TSG101, NRAS, SUFU, SMAD4, OPCML, GDNF, VHL, AKT1, SMARCA4, KAT5, ASCL1, PARK2, KARS, FASLG, EPHB2, TP53, CDK4, IL1B, NF1, FGFR3, PAX3, AXIN1, KIT, HMMR, EDARADD, SERPINC1, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, DKC1, INSR, WNT10A, SOS1, MNX1, BLM, FGFR2, TINF2, IL6, CDKN1B, STX11, RET, PTEN, HRAS, DCC, HLA-DQB1, ADA, ESR1, TGFBR2, ODC1, HFE

fibroblast growth factor binding0.006694688.878

SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DIAMOND-BLACKFAN ANEMIA 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, BURKITT LYMPHOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

7

FGFR2, RPS19, FGFR1, TGFBR2, FGFR3, FGFR4, MYC

core promoter binding2.55049e-086.2138

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, FRASIER SYNDROME, IMMUNODEFICIENCY 21, MISMATCH REPAIR CANCER SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, PAPILLARY THYROID CARCINOMA, MUIR-TORRE SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

24

SMARCA4, MYC, LZTR1, CCND1, GATA2, PPARG, STAT3, BRCA1, CDKN1B, MSH2, MAX, IL6, TP53, WT1, NKX2-1, MMP1, EP300, FOXO1, DCC, NF1, PCNA, CREBBP, ESR1, RB1

core promoter sequence-specific DNA binding0.0009923546.8920

CHOROID PLEXUS PAPILLOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, LYNCH SYNDROME I, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, MUIR-TORRE SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MISMATCH REPAIR CANCER SYNDROME, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

14

MAX, DCC, MMP1, RUNX1, TP53, PPARG, PCNA, MYC, ESR1, CREBBP, EP300, FOXO1, SMARCA4, MSH2

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription1.71539e-068.1619

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LI-FRAUMENI SYNDROME, BURKITT LYMPHOMA, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, PROTEUS SYNDROME, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

12

NKX2-1, RUNX1, RB1, TP53, PCNA, MYC, ESR1, CREBBP, SMARCA4, AKT1, ERBB2, PAX3

ligase activity0.001961864.4443

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY 24, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LI-FRAUMENI SYNDROME, MULIBREY NANISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP T, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

36

BARD1, SMARCB1, AURKA, CBL, MYC, SMAD4, AR, MYD88, FOXO1, ATM, RNF6, CCND1, UBE2T, ESR1, KIF1B, BRCA1, CDH1, LIG4, TRIM28, CDKN2A, PARK2, RUNX1, KARS, PCNA, LZTR1, CHEK2, RAD51, TP53, CTPS1, MCM4, RB1, TLR4, STAT3, TRIM37, BAP1, FANCD2

protein dimerization activity2.26399e-252.46138

BROOKE-SPIEGLER SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ?IMMUNODEFICIENCY 16, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {THYROID CANCER, NONMEDULLARY, 4}, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EXOSTOSES, MULTIPLE, TYPE 2, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, BREAST-OVARIAN CANCER, FAMILIAL 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

142

NF1, TSC2, BRCA2, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, CYLD, PPARG, CD82, PRKAR1A, RECQL4, CTNNB1, BTK, IKZF1, CDKN2A, WT1, IL1B, CASP8, MMP1, SMARCA4, PIK3CA, SOS1, CDC73, ERCC2, PDGFRB, CREBBP, BLM, WWOX, BAP1, TGFBR2, PCNA, ERBB2, RSPO1, RUNX1, TRIM28, RB1CC1, LZTR1, AR, GPC3, WRN, IDH1, BAX, GDNF, GATA2, FGFR1, PIK3CD, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, RAD51, MAX, TNFRSF4, HIP1, KRAS, RB1, ITK, STX11, HOXB13, STAT3, FOXE1, ACD, HAX1, GATA1, MEN1, TSG101, SUFU, SMAD4, EXT1, FOXO1, TJP2, VHL, BRCA1, AKT1, LIG4, KAT5, ASCL1, CARD11, PARK2, TP53, BRIP1, EPHB2, TWIST1, POLD1, CDH1, CDKN1C, RPS19, PTEN, PAX3, BRAF, AXIN1, KIT, TLR2, POLA1, BARD1, CORO1A, SMARCB1, CHEK2, TLR4, NTRK1, PTPN11, ATM, GJB2, MXI1, BCL10, ERCC4, EXT2, MAP3K1, INSR, POLE, KARS, MSH2, FGFR2, ODC1, IL6, CDKN1B, PHB, BDNF, RET, APC, HRAS, FASLG, CDK4, ADA, TERT, ATR, ESR1, TRIM37, HFE, NSD1, PDGFB, DICER1

annealing helicase activity0.037688910.74

BLOOM SYNDROME, ROTHMUND-THOMSON SYNDROME, ATAXIA-TELANGIECTASIA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

4

ATM, RECQL4, RAD54L, BLM

SMAD binding3.9459e-087.125

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ANDROGEN INSENSITIVITY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

17

BMPR1A, CREBBP, MEN1, MYC, TGFBR2, AXIN2, AR, RB1CC1, SMAD4, PTEN, AXIN1, TGFBR1, EP300, CTNNB1, AKT1, TP53, ACVR1B

protein heterodimerization activity1.64208e-223.6592

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EXOSTOSES, MULTIPLE, TYPE 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BECKWITH-WIEDEMANN SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, EXOSTOSES, MULTIPLE, TYPE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

87

TSC2, BRCA2, MAD1L1, MYC, POT1, GNAS, HAX1, PPARG, CD82, PRKAR1A, CDH1, BTK, IKZF1, CDKN2A, NF1, MMP1, SOS1, CDC73, ERBB2, CREBBP, BLM, PDGFRB, SMARCA4, RUNX1, FGFR2, CASP8, LZTR1, AR, BAX, GATA2, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, TGFBR1, EP300, FOXO1, MAX, HIP1, RB1, BDNF, STAT3, BRAF, GATA1, GPC3, CTNNB1, SMAD4, EXT1, VHL, MEN1, BRCA1, AKT1, KRAS, KAT5, CARD11, PARK2, KARS, EPHB2, TWIST1, CDK4, CDKN1C, PTEN, PAX3, TLR2, POLA1, BARD1, SMARCB1, CHEK2, TLR4, PTPN11, ATM, ERCC4, EXT2, POLE, TP53, MSH2, TRIM28, IL6, PCNA, RET, HRAS, ESR1, NSD1, PDGFB

transition metal ion binding9.86113e-192.15139

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 13, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, SOTOS SYNDROME 1, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, CARCINOID TUMORS, INTESTINAL, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ADENOMAS, MULTIPLE COLORECTAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, {BUDD-CHIARI SYNDROME}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NOONAN SYNDROME 4, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

148

TSC2, MSH6, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, MLH1, RBBP8, CYLD, PPARG, CDH1, CTNNB1, BTK, STK11, CDKN2A, WT1, IL1B, CASP8, MMP1, SMARCA4, PIK3CA, SOS1, PTPRJ, CDC73, ERCC2, SNAI2, PDGFRB, SMAD4, CREBBP, MSH2, BAP1, PTEN, PCNA, NF2, ERBB2, MLH3, XRCC4, LIG4, RUNX1, RB1CC1, LZTR1, AR, WRN, PLA2G2A, ERCC3, BAX, BUB1B, GATA2, FGFR1, PIK3CD, RPS29, EDARADD, CBL, SMARCE1, CCND1, PAX7, MEN1, EP300, RAD51, MAX, TNNT2, RB1, STX11, CYP2D6, STAT3, SEC23B, ACD, HAX1, ACVR1B, GATA1, TGFBR1, VHL, TSG101, SERPINC1, MUTYH, SDHD, ETV6, FOXO1, UBE2T, HRAS, BRCA1, AKT1, RSPO1, KAT5, ASCL1, CARD11, PARK2, AXIN2, TP53, RAD54B, EPHB2, IFNG, RECQL4, MCM4, TINF2, CDKN1C, RPS19, NF1, IL1RN, TLR4, ABCB11, AXIN1, TLR2, POLA1, DDX41, BARD1, NME1, SMARCB1, AURKA, CHEK2, PAX3, NTRK1, JAG1, PTPN11, ATM, PTPN12, ATP7A, MXI1, NSD1, DKC1, MAP3K1, INSR, SERPINA1, POLE, BLM, TRIM28, BRAF, IL6, CDKN1B, PHB, RNF6, BDNF, GPC3, APC, ZFHX3, DCC, GDNF, CDK4, RNASEL, ADA, ESR1, TGFBR2, MT-CO1, TRIM37, DICER1

growth factor receptor binding5.28958e-185.9942

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, MULTIPLE ENDOCRINE NEOPLASIA IIB, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SCHOPF-SCHULZ-PASSARGE SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

37

IL1RN, AURKA, CBL, FGFR4, POT1, AKT1, BCL10, PIK3CA, PTPN11, MYD88, FGFR1, ESR1, INSR, WNT10A, CDH1, KARS, SOS1, FGFR2, PIK3CD, IL6, MET, CDKN1B, TLR4, MYC, RET, FOXO1, PTEN, HRAS, PTPRJ, IL1B, JAG1, PDGFRB, FGFR3, PAX3, STAT3, ERBB2, PDGFB

sequence-specific DNA binding transcription factor activity1.58037e-172.75114

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {WILMS TUMOR SUSCEPTIBILITY-5}, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SOTOS SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYNCH SYNDROME I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CURRARINO SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, TUMOR PREDISPOSITION SYNDROME, {THYROID CANCER, NONMEDULLARY, 4}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

113

MAD1L1, BRCA2, MYC, POT1, GNAS, BMPR1A, MLH1, RBBP8, SEPT9, PPARG, CDH1, CTNNB1, BTK, IKZF1, STK11, CDKN2A, WT1, CDKN1C, MMP1, SMARCA4, NBN, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, BAP1, TGFBR2, NF2, ERBB2, KRAS, RUNX1, FGFR2, CASP8, LZTR1, NME1, ERCC3, HOXB13, BUB1B, GATA2, PLAG1, PIK3CD, IFNG, CBL, SMARCE1, CCND1, PAX7, KARS, NKX2-1, MEN1, EP300, RAD51, MAX, TNNT2, RB1, PCNA, STAT3, FOXE1, ACD, GATA1, TSG101, SUFU, SMAD4, ETV6, FOXO1, TJP2, APC, VHL, HRAS, BRCA1, AKT1, RSPO1, KAT5, AIP, ASCL1, PARK2, MNX1, TWIST1, CDK4, IL1B, PTEN, FGFR3, PAX3, TLR2, BARD1, AR, SMARCB1, CHEK2, TLR4, POU6F2, NTRK1, PTPN11, ATM, NSD1, DKC1, SOS1, TP53, MSH2, TRIM28, TINF2, IL6, CDKN1B, PHB, BDNF, RET, LZTS1, ZFHX3, DCC, GDNF, RNASEL, ESR1, TRIM37, DICER1

scavenger receptor activity0.002268257.0121

{MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, PIEBALDISM, BURKITT LYMPHOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {GLIOMA SUSCEPTIBILITY 9}, BANNAYAN-RILEY-RUVALCABA SYNDROME, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

13

MSR1, CBL, CCND1, IL6, PTEN, STAT3, MYC, POT1, CREBBP, AR, SNAI2, AKT1, INSR

isoprenoid binding0.03997227.6812

?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SMALL CELL CANCER OF THE LUNG, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, PROTEUS SYNDROME, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

9

IL1B, RB1, PPARG, MYC, ESR1, CREBBP, ACD, AKT1, IGF2R

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity1.03176e-126.1246

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, MUIR-TORRE SYNDROME, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYNCH SYNDROME I, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

30

PCNA, CTNNB1, RUNX1, MYC, SMAD4, AR, PTPN11, CCND1, PPARG, ESR1, CDH1, SMARCA4, MSH2, CDKN2A, TP53, WT1, NKX2-1, RET, EP300, GDNF, AKT1, ZFHX3, CDK4, SNAI2, ERBB2, BDNF, CREBBP, STAT3, RB1, PAX3

purine ribonucleoside binding5.96252e-322.01151

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LI-FRAUMENI SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL ADENOMATOUS POLYPOSIS 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?N SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUROFIBROMATOSIS, TYPE 1, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

164

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, FAS, GNAS, MYD88, BMPR1A, STK10, RBBP8, CYLD, PPARG, DKC1, PRKAR1A, IL6, CTPS1, BTK, STK11, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, POLE, CDC73, RPS19, ERCC2, PDGFRB, CREBBP, MSH2, BAP1, PTEN, FANCD2, NF2, ERBB2, MLH3, PTPRJ, LIG4, RUNX1, TRIM28, CASP8, DLC1, LZTR1, NME1, WRN, ERCC3, HOXB13, BUB1B, GATA2, MLH1, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, NTHL1, NKX2-1, MEN1, EP300, RAD51, HIP1, KRAS, TNNT2, RB1, ITK, PCNA, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TGFBR1, VHL, CTNNB1, DDX41, CDKN3, RAD54L, SMAD4, ETV6, FOXO1, UBE2T, KIF1B, BRCA1, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, TP53, BRIP1, PHOX2B, CHEK2, POLD1, RECQL4, MCM4, CDKN1C, HAX1, XRCC3, NF1, FGFR3, ABCB11, BRAF, AXIN1, KIT, TLR2, POLA1, ABCC11, NRAS, AR, CORO1A, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, BCL10, ERCC4, ESR1, MAP3K1, INSR, SOS1, KARS, BLM, FGFR2, TINF2, BAX, CDKN1B, PHB, PMS2, RTEL1, BDNF, RAD54B, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, NHP2, TERT, ATR, TSC1, CDH1, TGFBR2, TRIM37, MMP1, DICER1, PDGFB

regulatory region nucleic acid binding8.60273e-183.7383

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SOTOS SYNDROME 1, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PANCREATIC CANCER/MELANOMA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, MUIR-TORRE SYNDROME, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, PAPILLARY THYROID CARCINOMA, ADENOMAS, SALIVARY GLAND PLEOMORPHIC, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, ATAXIA-TELANGIECTASIA, THROMBOCYTOPENIA 5, LI-FRAUMENI SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

78

PCNA, GATA1, MAD1L1, RET, PAX7, DKC1, TSG101, TP53, KARS, MYC, EP300, SMAD4, PTEN, AR, ASCL1, ETV6, POT1, TWIST1, PTPN11, ATM, SMARCB1, TERT, BUB1B, GATA2, PPARG, ESR1, PLAG1, NSD1, SUFU, IL6, BRCA1, BAP1, AKT1, BTK, MMP1, SMARCA4, MSH2, WT1, MAX, FGFR2, SMARCE1, CCND1, CDKN2A, RUNX1, CDKN1B, PHB, IL1B, PHOX2B, BDNF, KAT5, LZTR1, CHEK2, MEN1, TLR4, FOXO1, NME1, POLD1, CDH1, ZFHX3, DCC, GDNF, CDKN1C, CDK4, CDC73, SNAI2, TGFBR2, IFNG, RB1, NKX2-1, CREBBP, HOXB13, STAT3, CASP8, AXIN1, TINF2, CTNNB1, ERBB2, PAX3

signaling adaptor activity1.89195e-066.9528

MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

17

NRAS, PDGFRB, KRAS, CBL, ERBB2, FASLG, MAP3K1, PARK2, POT1, CREBBP, KIT, SH2D1A, SOS1, AKT1, NTRK1, TP53, PTPN11

transmembrane transporter activity4.63335e-053.175

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, OCCIPITAL HORN SYNDROME, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RHABDOMYOSARCOMA, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CITRULLINEMIA, ADULT-ONSET TYPE II, OLMSTED SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 10, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CARCINOID TUMORS, INTESTINAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, ADRENAL CORTICAL CARCINOMA, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

72

PCNA, TSC2, STIM1, ERBB2, PPARG, TSG101, TP53, RB1CC1, DLC1, STX11, POT1, PTEN, CREBBP, AR, PIK3R2, AKT1, MYD88, FOXO1, BMPR1A, F5, TJP2, CCND1, ATP7A, CORO1A, FGFR1, ESR1, MET, PRKAR1A, IDH1, SERPINA1, TRPV3, SOS1, PDGFRB, CTNNB1, POLE, RUNX1, SDHD, PIK3CD, CDKN2A, SLC22A18, SLC25A13, IL6, IFNG, NME1, ABCC11, NKX2-1, RAD51, GJB2, TGFBR1, GATA2, EP300, PIK3CA, CDH1, HRAS, IL1B, CDK4, CDC73, KRAS, MYC, TNNT2, SMAD4, BDNF, ABCB11, BRAF, STAT3, BAX, ACVR1B, ODC1, PTPN11, ACD, HAX1, MT-CO1

peptidase activity, acting on L-amino acid peptides1.60572e-083.4675

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {?THYROID CANCER, NONMEDULLARY, 5}, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKERATOSIS CONGENITA, X-LINKED, ADRENAL CORTICAL CARCINOMA, PAPILLARY THYROID CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NOONAN SYNDROME 4, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DESMOID DISEASE, HEREDITARY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CYLINDROMATOSIS, FAMILIAL, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, {BUDD-CHIARI SYNDROME}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, TYLOSIS WITH ESOPHAGEAL CANCER, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

67

FASLG, SERPINC1, TGFBR1, PPARG, SMARCA4, AURKA, HLA-DQA1, MYC, BRAF, POT1, PTEN, STX11, CREBBP, HABP2, FAS, AKT1, NTRK1, PIK3CA, ERCC3, CARD11, IGF2R, CYLD, VHL, ESR1, DKC1, SERPINA1, BAP1, CDH1, MMP1, CTNNB1, AXIN1, CCND1, CBL, BRCA1, CDKN2A, RUNX1, CDKN1B, PHB, AR, CASP8, RHBDF2, PCNA, PAX3, LIG4, IL6, FOXO1, TP53, APC, SOS1, HRAS, IL1B, CDK4, SNAI2, IFNG, ERBB2, IL1RN, SMAD4, NME1, ADA, STAT3, MYD88, KAT5, TINF2, F5, HFE, RB1, ACVR1B

GTPase regulator activity0.0003438984.5450

GLIOMA SUSCEPTIBILITY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROFIBROMATOSIS, TYPE 1, MULIBREY NANISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, NOONAN SYNDROME 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

35

TSC2, NF2, CTNNB1, AXIN2, EPHB2, POT1, PTEN, AR, FAS, GNAS, PIK3CA, HAX1, MAP3K1, INSR, DLC1, TSG101, AXIN1, SOS1, CARD11, PARK2, TP53, CASP8, MYC, TGFBR1, GDNF, APC, AKT1, HRAS, KRAS, NF1, TLR4, ATR, TSC1, TRIM37, ERBB2

transmembrane receptor protein kinase activity4.19847e-196.6139

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CHOROID PLEXUS PAPILLOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, MULTIPLE ENDOCRINE NEOPLASIA IIB, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

28

RET, PDGFRL, FGFR4, ERBB2, AKT1, NTRK1, BMPR1A, IGF2R, FGFR1, INSR, PTPN11, CDH1, FGFR2, MET, RB1, TP53, MYC, TGFBR1, PTEN, HRAS, FASLG, PDGFRB, FGFR3, EPHB2, STAT3, KIT, TGFBR2, ACVR1B

enhancer binding1.15325e-116.4542

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, PANCREATIC CANCER/MELANOMA SYNDROME, MISMATCH REPAIR CANCER SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, MUIR-TORRE SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, LYNCH SYNDROME I, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RUBINSTEIN-TAYBI SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

26

GATA1, RET, CTNNB1, RUNX1, MYC, SMAD4, CDKN2A, GATA2, PPARG, STAT3, BRCA1, AKT1, SMARCA4, MSH2, CCND1, TP53, NKX2-1, LZTR1, CHEK2, MEN1, EP300, GDNF, RB1, PAX3, CREBBP, ESR1