NEOPLASIA

TermP valueIC# diseasesdiseases# genesgenes
Progesterone-mediated oocyte maturation2.01099e-075.2436

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, 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, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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}, PROTEUS SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

MAD1L1, KRAS, MYC, GNAS, FOXO1, PIK3R2, PPARG, INSR, PRKAR1A, BRCA1, CDH1, TP53, SOS1, PIK3CD, CDKN1B, PIK3CA, AKT1, HRAS, RB1, ESR1, BRAF, CTNNB1, TGFBR2

Estrogen signaling pathway0.01470055.0527

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 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, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, 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, 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, {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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

15

ATM, NRAS, KRAS, RB1, ERBB2, SMAD4, ESR1, PIK3CA, PIK3CD, PIK3R2, GNAS, AKT1, PDGFRB, HRAS, SOS1

Intestinal immune network for IgA production0.0001492485.99

TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY, COMMON VARIABLE, 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}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

7

HLA-DQB1, IL6, IFNG, TNFRSF13B, HLA-DQA1, FAS, AKT1

Leukocyte transendothelial migration0.04754934.6627

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 1, {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, 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, {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}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

19

SMARCA4, TJP2, PIK3CD, TNNT2, PPARG, CTNNB1, ITK, SMAD4, MAP3K1, STAT3, CDH1, MYC, TGFBR1, PIK3R2, PTPN11, SOS1, AKT1, PIK3CA, HRAS

Oxytocin signaling pathway0.0001862594.2441

ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, LEIOMYOMATOSIS AND RENAL CELL CANCER, PEUTZ-JEGHERS SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, 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}, 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}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, DIAMOND-BLACKFAN ANEMIA 1, 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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

26

NRAS, SMARCB1, MYC, PIK3R2, GNAS, PLA2G2A, ATM, TJP2, IL6, PRKAR1A, PIK3CD, AKT1, KRAS, AXIN1, STK11, CCND1, PARK2, TP53, FH, TGFBR1, PIK3CA, SOS1, HRAS, RPS19, STAT3, BTK

Adipocytokine signaling pathway0.003479465.5425

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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, PEUTZ-JEGHERS SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, RUBINSTEIN-TAYBI SYNDROME, 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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

15

IL1B, STK11, CCND1, IL6, TP53, PPARG, SMAD4, MYC, TSC1, ESR1, CREBBP, STAT3, FOXO1, AKT1, PTPN11

Thyroid hormone signaling pathway7.9288e-114.8547

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, 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, IMMUNODEFICIENCY 21, ANDROGEN INSENSITIVITY, 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, IMMUNODEFICIENCY 14, {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, PAPILLARY THYROID CARCINOMA, 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}, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, 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, 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, {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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

31

NRAS, SMARCA4, TSC2, MYC, SMAD4, CREBBP, AR, PIK3R2, PIK3CA, ATM, IL6, GATA2, PPARG, ESR1, BRCA1, AKT1, CTNNB1, PIK3CD, CCND1, TP53, NKX2-1, EP300, FOXO1, SOS1, HRAS, IL1B, KRAS, RB1, ATR, STAT3, PTEN

Herpes simplex infection2.25086e-093.835

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, PROSTATE CANCER 1, ATAXIA-TELANGIECTASIA, 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, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, 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, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

35

PPARG, SMARCB1, TP53, MYC, FAS, ETV6, MYD88, PTPN11, ATM, CCND1, BCL10, VHL, ESR1, CD82, PPM1D, CDH1, KRAS, KAT5, IL6, MET, IFNG, IL1B, CASP8, HLA-DQB1, STX11, CHEK2, EP300, AKT1, FASLG, RNASEL, TGFBR2, CREBBP, STAT3, HLA-DQA1, TLR2

Epstein-Barr virus infection4.83249e-103.6948

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {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, RUBINSTEIN-TAYBI SYNDROME, XERODERMA PIGMENTOSUM, GROUP D, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

37

GATA1, NME1, MSH6, CTNNB1, TP53, MYC, TLR4, PTEN, AR, PIK3R2, CCND1, PPARG, ESR1, MAP3K1, CD82, PIK3CD, AKT1, CDKN1B, BTK, CBL, IL6, IFNG, CASP8, TGFBR1, EP300, PIK3CA, SOS1, HRAS, HLA-DQB1, ERCC2, CD27, RB1, CREBBP, STAT3, HLA-DQA1, TLR2, PDGFRB

Influenza A1.91925e-173.8551

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROSTATE CANCER 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, 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, BLOOM SYNDROME, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {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, 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, 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, {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, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

46

GATA1, FASLG, FGFR1, SMARCA4, TP53, CASP8, POT1, AR, FAS, PIK3R2, BCL10, PTPN11, ERCC3, BAX, MYD88, PPARG, ESR1, CD82, PRKAR1A, PIK3CD, CDH1, BTK, CTNNB1, BLM, CCND1, CBL, HLA-DQA1, IL6, CDKN1B, HLA-DQB1, TGFBR1, EP300, PIK3CA, AKT1, HRAS, IL1B, RNASEL, IFNG, RB1, TLR4, CREBBP, STAT3, TGFBR2, TINF2, TLR2, PDGFRB

HTLV-I infection6.24416e-273.2284

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SMALL CELL CANCER OF THE LUNG, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LI-FRAUMENI SYNDROME, 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}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DESMOID DISEASE, HEREDITARY, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PAPILLARY THYROID CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, 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, 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}, 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, {GLIOBLASTOMA 3}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, SCHOPF-SCHULZ-PASSARGE SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, NEUROCUTANEOUS MELANOSIS, SOMATIC, 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, {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}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

70

PCNA, GATA1, NRAS, BRCA2, TGFBR1, FGFR1, CTNNB1, AXIN2, CBL, EPHB2, SMAD4, PTEN, CREBBP, CHEK2, PIK3R2, PDGFRB, WRN, PTPN11, ATM, RRAS2, CDKN2A, BUB1B, APC, GATA2, PPARG, CD82, MAP3K1, INSR, PIK3CA, IL6, PIK3CD, AKT1, SMARCA4, AXIN1, POLE, CCND1, ESR1, FGFR2, BRCA1, WNT10A, BAX, AURKA, IFNG, HLA-DQB1, TLR4, RUNX1, GNAS, NKX2-1, KAT5, PAX3, MYC, MEN1, EP300, GDNF, TP53, POLD1, CDH1, HRAS, IL1B, CDK4, KRAS, RB1, SERPINA1, ATR, STAT3, PDGFB, HLA-DQA1, TGFBR2, TERT, SOS1

Hepatitis C4.84809e-084.5940

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROSTATE CANCER 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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, {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, 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

NRAS, PPARG, KRAS, SMAD4, PIK3R2, AKT1, PPM1D, ETV6, PTPN11, FGFR1, ESR1, PIK3CD, CDH1, TP53, IFNG, TGFBR1, PIK3CA, SOS1, HRAS, RNASEL, RB1, PTPRJ, TLR2, CREBBP, STAT3, TGFBR2, BRAF, KIT, CTNNB1, PDGFRB

Hepatitis B4.57127e-144.645

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, ?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, 3}, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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}, {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, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, 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, {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

NRAS, SMARCA4, AURKA, MYC, SMAD4, FAS, PIK3R2, MYD88, ETV6, BAX, ESR1, MAP3K1, PIK3CD, CDH1, IFNG, CCND1, IL6, CDKN1B, FASLG, PCNA, CASP8, TGFBR1, EP300, PIK3CA, TP53, AKT1, HRAS, IL1B, CDK4, KRAS, RB1, TLR4, CREBBP, STAT3, TLR2, PTEN, PDGFB

Measles8.6617e-114.542

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {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, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, 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 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, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, 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, {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, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

35

TP53, CASP8, TLR4, FAS, PIK3R2, AKT1, MYD88, PTPN11, BAX, BCL10, ESR1, PIK3CD, CDK4, CDKN1B, BTK, PDGFRB, CCND1, CBL, BRCA1, IL6, RUNX1, IFNG, IL1B, PCNA, TGFBR1, PIK3CA, CDH1, HRAS, FASLG, RB1, CREBBP, STAT3, TGFBR2, TLR2, SH2D1A

Vascular smooth muscle contraction0.02012154.6330

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

18

ATM, DCC, BRAF, IL6, ADA, TP53, STAT3, MYC, DLC1, STX11, PRKAR1A, PLA2G2A, PIK3CD, GNAS, AKT1, PIK3CA, HRAS, SOS1

GnRH signaling pathway0.02997165.1226

ATAXIA-TELANGIECTASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, THROMBOCYTOPENIA 5, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, 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, {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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

14

ATM, NRAS, KRAS, IFNG, IL1B, TP53, TLR2, MAP3K1, GNAS, ETV6, AKT1, CTNNB1, HRAS, SOS1

Homologous recombination2.66494e-057.4115

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-OVARIAN CANCER, FAMILIAL, 2}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, NIJMEGEN BREAKAGE 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}, 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, BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LYNCH SYNDROME I, {GLIOBLASTOMA 3}, MISMATCH REPAIR CANCER SYNDROME

10

BRCA2, XRCC3, MSH6, NBN, RAD54B, CHEK2, RAD54L, RAD51, POLD1, BLM

Insulin signaling pathway4.51997e-084.3443

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PEUTZ-JEGHERS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PROTEUS SYNDROME, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PAPILLARY THYROID CARCINOMA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, 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, {GLIOMA SUSCEPTIBILITY 9}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, RUBINSTEIN-TAYBI SYNDROME, 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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

32

TSC2, KRAS, NRAS, MYC, POT1, PIK3R2, BCL10, FOXO1, CORO1A, FGFR1, STAT3, INSR, PRKAR1A, BRCA1, AKT1, ESR1, CBL, STK11, PIK3CD, TP53, TGFBR1, EP300, PIK3CA, SOS1, HRAS, ETV6, ERBB2, CREBBP, TSC1, BRAF, KIT, TLR2

Ras signaling pathway1.14385e-113.6760

NEUROFIBROMATOSIS-NOONAN 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, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, PAPILLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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}, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, 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

49

NRAS, ERBB2, FGFR1, KRAS, AURKA, CBL, EPHB2, SMAD4, PTEN, NME1, PIK3R2, ETV6, PLA2G2A, RRAS2, BAX, CDKN2A, ESR1, MEN1, INSR, PTPN11, PIK3CD, CDH1, SOS1, CCND1, FGFR2, IL6, MET, RUNX1, TP53, FASLG, GNAS, BDNF, FGFR4, TGFBR1, RET, PIK3CA, AKT1, HRAS, IL1B, JAG1, NF1, FGFR3, STAT3, BAP1, BRAF, KIT, TLR2, PDGFRB, PDGFB

Hippo signaling pathway1.28593e-074.0648

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL 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, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DENYS-DRASH 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, 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}, 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, SCHOPF-SCHULZ-PASSARGE SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CHOROID PLEXUS PAPILLOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {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, 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, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

35

NF2, VHL, CTNNB1, AXIN2, MYC, SMAD4, PTEN, AKT1, BMPR1A, TJP2, CCND1, MLH1, FGFR1, STAT3, KIF1B, BRCA1, DLC1, AXIN1, RUNX1, ESR1, WNT10A, BAX, AURKA, TP53, WT1, PCNA, TGFBR1, EP300, APC, CDH1, SNAI2, TGFBR2, PAX3, TSC1, ERBB2

ErbB signaling pathway8.5035e-085.4434

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

22

NRAS, KRAS, MYC, FAS, PIK3R2, ETV6, INSR, PIK3CA, PIK3CD, SOS1, TP53, CBL, CCND1, CDKN1B, BDNF, EP300, FOXO1, AKT1, HRAS, ERBB2, STAT3, BRAF

Hematopoietic cell lineage0.002374294.9722

?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 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, 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, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

19

PCNA, FASLG, CBL, MMP1, IL6, IFNG, IL1B, IL1RN, CD82, MYC, NHP2, STAT3, KAT5, AR, KIT, PIK3CA, AKT1, ERBB2, PTPN11

MAPK signaling pathway1.27558e-123.4559

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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, 46XY SEX REVERSAL 6, ATAXIA-TELANGIECTASIA, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {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, NEUROFIBROMATOSIS, TYPE 1, PAPILLARY THYROID CARCINOMA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, 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, NEUROFIBROMATOSIS-NOONAN 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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY 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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, 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, {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

53

PCNA, NRAS, ERBB2, FGFR1, CTNNB1, TP53, TSC2, MYC, POT1, PTEN, FAS, ETV6, NTRK1, ATM, TJP2, RRAS2, CCND1, PPARG, ESR1, MAP3K1, INSR, BRCA1, AKT1, KRAS, AXIN1, SOS1, FGFR2, IL6, RUNX1, CDKN1B, FASLG, TLR4, BDNF, KAT5, FGFR4, TGFBR1, PIK3CA, CDH1, HRAS, MAX, IL1B, CDK4, NF1, FGFR3, SMAD4, CREBBP, STAT3, TGFBR2, BRAF, MAD1L1, TLR2, PDGFRB, PDGFB

Thyroid hormone synthesis0.004146485.3528

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PANCREATIC CANCER/MELANOMA SYNDROME, {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, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PAPILLARY THYROID CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, DENYS-DRASH SYNDROME, 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}, THYROID DYSHORMONOGENESIS 3, {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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

14

ATM, IL6, CDKN2A, PAX7, PPARG, RB1, WT1, NKX2-1, CREBBP, TG, SOS1, AKT1, GNAS, HRAS

Graft-versus-host disease5.6555e-086.2811

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}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CELIAC DISEASE, 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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

9

HLA-DQB1, IL6, IFNG, IL1B, FASLG, HLA-DQA1, FAS, PIK3CA, PTPN11

AMPK signaling pathway2.55751e-064.8338

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA 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, IMMUNODEFICIENCY 14, PEUTZ-JEGHERS 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE 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, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, 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, {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

25

TSC2, PPARG, MYC, SMAD4, PIK3R2, PIK3CA, FGFR1, TSC1, INSR, PIK3CD, CDH1, STK11, CCND1, TP53, EP300, FOXO1, AKT1, HRAS, IL1B, RB1, TLR4, CREBBP, ESR1, STAT3, PTEN

PI3K-Akt signaling pathway1.04483e-122.9271

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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, 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, PEUTZ-JEGHERS SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, 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, IMMUNODEFICIENCY 14, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, 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, 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}, 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, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, SCHOPF-SCHULZ-PASSARGE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, {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, 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}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

68

TSC2, ERBB2, PPARG, CTNNB1, AURKA, NRAS, RB1CC1, SMAD4, CREBBP, FAS, PIK3R2, AKT1, MYD88, PIK3CA, PTPN11, TLR2, CCND1, VHL, INSR, COL7A1, CD82, PIK3CD, CDH1, BTK, MMP1, KRAS, MSH2, FGFR4, ESR1, FGFR2, FGFR1, STK11, BRCA1, IL6, CBL, RB1, CDKN1B, IL1B, TLR4, RUNX1, GNAS, BDNF, KAT5, MYC, TGFBR1, EP300, FOXO1, TP53, MET, SOS1, HRAS, FASLG, CDK4, JAG1, SNAI2, WNT10A, PTEN, FGFR3, PCNA, ABCB11, EPHB2, TSC1, TGFBR2, KIT, STAT3, BAP1, PDGFRB, PDGFB

Human Diseases1.24087e-160.39165

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, SOTOS SYNDROME 1, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, 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}, IMMUNODEFICIENCY, COMMON VARIABLE, 13, 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, {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}, CURRARINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?IMMUNODEFICIENCY 16, 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, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 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}, ONCOCYTOMA, 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}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, 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, 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, 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, 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, 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, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 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, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, 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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PARAGANGLIOMAS 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, DIAMOND-BLACKFAN ANEMIA 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY 24, PROTEUS SYNDROME, SOMATIC

194

TSC2, BRCA2, SFTPA2, MAD1L1, MYC, POT1, SDHC, F5, FAS, GNAS, MYD88, BMPR1A, MSH6, MLH1, CYLD, PPARG, CD82, PRKAR1A, CTPS1, CTNNB1, BTK, SOS1, IKZF1, STK11, MMP1, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, DLC1, CDC73, SNAI2, JAG1, PDGFRB, CREBBP, MSH2, HLA-DQA1, PTEN, SMARCB1, PCNA, NF2, ERBB2, XRCC4, LIG4, SUFU, RUNX1, TRIM28, RB1CC1, LZTR1, NME1, GPC3, WRN, IDH1, ERCC3, BAX, BUB1B, IGF2R, GATA2, FGFR1, ERCC2, MT-ND6, SDHB, PIK3CD, PTCH2, IFNG, CBL, SMARCE1, CCND1, MET, CD27, NKX2-1, MEN1, EP300, FGFR3, RAD51, MAX, TNFRSF4, HIP1, KRAS, TNNT2, RB1, ITK, STX11, STAT3, SEC23B, SEPT9, COL7A1, GATA1, TNFRSF13B, TGFBR1, DKC1, TSG101, NRAS, SFTPA1, SMAD4, SDHD, ETV6, PPM1D, FOXO1, TJP2, VHL, TG, BRCA1, IL1RN, AKT1, SMARCA4, KAT5, AIP, ASCL1, CARD11, PARK2, AXIN2, MNX1, BRIP1, FASLG, PHOX2B, EPHB2, TWIST1, POLD1, RECQL4, CDKN1C, HAX1, RPS19, NF1, PTPRJ, PAX3, ABCB11, BRAF, AXIN1, KIT, TLR2, SH2D1A, POLA1, SERPINC1, BARD1, AR, CORO1A, PAX7, KLF6, AURKA, CHEK2, TLR4, FLCN, PIK3R2, NTRK1, SDHA, PTPN11, ATM, RNF6, RRAS2, CDKN3, MXI1, BCL10, NSD1, TSC1, MAP3K1, TGFBR2, INSR, PLA2G2A, WNT10A, POLE, TP53, BLM, FGFR2, TINF2, IL6, CDKN1B, PHB, PTPN12, BDNF, SERPINA1, RET, APC, HRAS, DCC, GDNF, HLA-DQB1, CDK4, RNASEL, ADA, NHP2, TERT, ATR, ESR1, CDH1, CASP8, MT-CO1, ODC1, HFE, DICER1, PDGFB

Organismal Systems0.0005617160.34155

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, 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, {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, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CURRARINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, 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, OCCIPITAL HORN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 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}, {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, 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, ALAGILLE SYNDROME, 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, 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, THYROID DYSHORMONOGENESIS 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ADRENAL CORTICAL CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, 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, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 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, ?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, 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, 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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, OLMSTED SYNDROME, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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

171

TSC2, MSH6, MAD1L1, MYC, MT-CO1, POT1, F5, FAS, GNAS, MYD88, BMPR1A, CYLD, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, SOS1, STK11, MMP1, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, DLC1, ERCC2, SNAI2, PDGFRB, CREBBP, HLA-DQA1, BAP1, NF1, PCNA, NF2, ERBB2, IL1RN, SMARCA4, RUNX1, RB1CC1, SERPINA1, NME1, GPC3, WRN, PLA2G2A, MNX1, BAX, BUB1B, IGF2R, GATA2, FGFR1, PIK3CD, XRCC4, IFNG, CBL, SMARCE1, CCND1, MET, PAX7, NRAS, NKX2-1, MEN1, EP300, FGFR3, FOXO1, HIP1, KRAS, TNNT2, SH2D1A, ITK, STX11, CYP2D6, STAT3, FAH, SEC23B, ACD, SEPT9, ACVR1B, GATA1, TNFRSF13B, STIM1, TGFBR1, MUC5B, TSG101, DDX41, SMAD4, SDHD, ETV6, PPM1D, GDNF, TJP2, BRAF, VHL, TG, BRCA1, AKT1, SMARCB1, KAT5, AIP, CARD11, PARK2, AXIN2, KARS, FASLG, EPHB2, TRPV3, CDKN1C, HAX1, RPS19, PTEN, PTPRJ, PAX3, ABCB11, ADA, AXIN1, KIT, TLR2, RB1, POLA1, SERPINC1, BARD1, AR, KLF6, AURKA, CHEK2, TLR4, PIK3R2, NTRK1, JAG1, PTPN11, ATM, PTPN12, RRAS2, ATP7A, MXI1, BCL10, DICER1, ESR1, MAP3K1, INSR, WNT10A, POLE, TP53, MSH2, FGFR2, ODC1, IL6, CDKN1B, BDNF, RET, ERCC3, APC, HRAS, DCC, HLA-DQB1, CDK4, RNASEL, CD27, NHP2, ATR, TSC1, TGFBR2, CASP8, COL7A1, TINF2, HFE, CORO1A, PDGFB

Genetic Information Processing1.37486e-081.58110

WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 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, FANCONI ANEMIA, COMPLEMENTATION GROUP P, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, DIAMOND-BLACKFAN ANEMIA 13, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PARAGANGLIOMAS 5, NIJMEGEN BREAKAGE SYNDROME, WERNER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {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, {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, 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, ROTHMUND-THOMSON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, 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, 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, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, SHWACHMAN-DIAMOND SYNDROME, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, 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, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, FAMILIAL ADENOMATOUS POLYPOSIS 3, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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, ?N SYNDROME, 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, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {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, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 1, {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}, TUMOR PREDISPOSITION SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

108

TSC2, BRCA2, MSH6, MYC, POT1, MYD88, MLH1, RBBP8, RECQL4, PIK3CA, NBN, SOS1, CDC73, XRCC3, ERCC2, PDGFRB, MUTYH, CREBBP, BLM, BAP1, SBDS, FANCD2, MLH3, LIG4, RUNX1, RB1CC1, LZTR1, AR, WRN, ERCC3, BAX, BUB1B, GATA2, PIK3CD, RPS29, IFNG, CBL, CCND1, NTHL1, TGFBR1, EP300, RAD51, MAX, RB1, PCNA, STAT3, SEC23B, MEN1, UBE2T, RAD54L, SMAD4, ETV6, PPM1D, FOXO1, VHL, BRCA1, AKT1, SMARCA4, KAT5, PARK2, KARS, BRIP1, RAD54B, POLD1, CDH1, MCM4, TERT, RPS19, PTEN, XRCC4, SERPINA1, AXIN1, TLR2, POLA1, BARD1, NME1, SMARCB1, AURKA, CHEK2, TLR4, GTF2H5, PIK3R2, BCL10, SDHA, PTPN11, ATM, ERCC4, DKC1, MAP3K1, INSR, POLE, TP53, MSH2, IL6, CDKN1B, PHB, PMS2, STX11, SLX4, HRAS, CDK4, NHP2, ATR, ESR1, TRIM37, NOP10, PALB2, DICER1

Cellular Processes3.1508e-170.93133

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, 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, 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, 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, BECKWITH-WIEDEMANN SYNDROME, ICHTHYOSIS, X-LINKED, 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, SOTOS SYNDROME 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH 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, KERATITIS-ICHTHYOSIS-DEAFNESS 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, 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, {BUDD-CHIARI SYNDROME}, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 8, 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, 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, {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, ADRENAL CORTICAL CARCINOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, 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, 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, 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, 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, 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, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, GAUCHER DISEASE, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

155

TSC2, SFTPA2, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, BMPR1A, MSH6, HAX1, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, STK11, MMP1, CDKN2A, WT1, CDKN1C, CASP8, FGFR4, PIK3CA, SOS1, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, MSH2, HLA-DQA1, BAP1, TGFBR2, PCNA, NF2, ERBB2, PTPRJ, SMARCA4, RUNX1, TRIM28, RB1CC1, LZTR1, NME1, WRN, IDH1, IDH2, ERCC3, BAX, BUB1B, IGF2R, GATA2, FGFR1, PIK3CD, ESR1, CBL, CCND1, MET, IFNG, NKX2-1, MEN1, EP300, FOXO1, MAX, HIP1, TNNT2, RB1, STX11, HOXB13, STAT3, BRAF, ACVR1B, GATA1, TGFBR1, TSG101, SFTPA1, SMAD4, STAG3, ETV6, PPM1D, GDNF, TJP2, VHL, HRAS, BRCA1, AKT1, KRAS, KAT5, CARD11, AXIN2, TP53, FASLG, RAD54B, EPHB2, TWIST1, POLD1, CDK4, MCM4, IL1B, PTEN, FGFR3, TLR4, STS, AXIN1, KIT, TLR2, POLA1, NRAS, BARD1, AR, CORO1A, SMARCB1, AURKA, CHEK2, PAX3, PIK3R2, NTRK1, JAG1, PTPN11, ATM, PTPN12, RRAS2, GJB2, MXI1, BCL10, NSD1, MSR1, MAP3K1, INSR, WNT10A, DLC1, BLM, FGFR2, TINF2, IL6, GBA, CDKN1B, PHB, PMS2, BDNF, SERPINA1, RET, APC, ZFHX3, DCC, HLA-DQB1, ATR, TSC1, COL7A1, ODC1, HFE, DICER1, PDGFB

Environmental Information Processing9.66772e-110.63145

PROSTATE CANCER 1, 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, 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, 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}, 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, 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, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?IMMUNODEFICIENCY 16, BROOKE-SPIEGLER SYNDROME, {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, 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, 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, LYMPHOPROLIFERATIVE SYNDROME 2, 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, 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, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, 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, 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, LYMPHOPROLIFERATIVE SYNDROME 1, {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, ADRENAL CORTICAL 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, 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, TYROSINEMIA, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, 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}, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, [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

165

TSC2, MSH6, MAD1L1, MYC, MT-CO1, POT1, FAS, GNAS, MYD88, BMPR1A, MLH1, CYLD, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, IKZF1, STK11, MMP1, CDKN2A, WT1, IL1B, CASP8, FGFR4, PIK3CA, NBN, POLE, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, HLA-DQA1, BAP1, PTEN, PCNA, NF2, ERBB2, FGFR3, SMARCA4, RUNX1, RB1CC1, DLC1, SERPINA1, NME1, GPC3, WRN, PLA2G2A, ERCC3, BAX, GATA2, FGFR1, PIK3CD, PTCH2, CD27, ESR1, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, FOXO1, HMMR, MAX, TNFRSF4, TNNT2, RB1, ITK, STX11, STAT3, FAH, BRAF, HAX1, ACVR1B, GATA1, TNFRSF13B, STIM1, TGFBR1, PTPRJ, TSG101, NRAS, SUFU, SMAD4, ETV6, PPM1D, GDNF, TJP2, VHL, KIF1B, BRCA1, AKT1, KRAS, KAT5, AIP, ASCL1, CARD11, PARK2, AXIN2, TP53, FASLG, GJB2, TWIST1, IFNG, POLD1, CTPS1, CDKN1C, NF1, IL1RN, PAX3, ABCB11, AXIN1, KIT, TLR2, POLA1, EDARADD, SERPINC1, AR, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, JAG1, PTPN11, ATM, PTPN12, RRAS2, MXI1, BCL10, TSC1, MAP3K1, INSR, WNT10A, SOS1, MSH2, FGFR2, TINF2, IL6, CDKN1B, PHB, ABCC11, BDNF, RET, APC, HRAS, DCC, HLA-DQB1, CDK4, RNASEL, ADA, NHP2, ATR, EXT2, TGFBR2, COL7A1, ODC1, HFE, CORO1A, PDGFB

Digestive system0.01373922.6857

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, OCCIPITAL HORN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, RUBINSTEIN-TAYBI SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, NOONAN SYNDROME 4, 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, 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, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {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, 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, 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, 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}

49

PPARG, SMARCA4, TP53, RB1CC1, STX11, TLR4, PTEN, CREBBP, VHL, PIK3R2, GDNF, PLA2G2A, ATM, CARD11, ATP7A, HAX1, MUC5B, CD27, INSR, PIK3CA, PTPN11, PIK3CD, CDH1, CTNNB1, BTK, SOS1, CCND1, ESR1, CBL, IL6, CDKN1B, GNAS, BDNF, MYC, TGFBR1, EP300, FOXO1, AKT1, HRAS, IL1B, IFNG, RB1, PCNA, ABCB11, ADA, STAT3, KAT5, ERBB2, COL7A1

Axon guidance0.0003422824.5735

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {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, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, ADRENAL CORTICAL CARCINOMA, NEUROFIBROMATOSIS-NOONAN 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 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, 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}, 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, CHOROID PLEXUS PAPILLOMA

24

NF1, NRAS, KRAS, RUNX1, MYC, PTPN11, FGFR1, ESR1, CDH1, FGFR2, CCND1, MET, TP53, CDKN1C, EPHB2, EP300, AKT1, HRAS, DCC, FASLG, PTEN, STAT3, BAP1, ERBB2

Choline metabolism in cancer7.13385e-054.9236

ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, 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, 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, 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, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, 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, {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, CHOROID PLEXUS PAPILLOMA

22

TSC2, KRAS, RUNX1, NRAS, EPHB2, PIK3R2, PIK3CA, PTPN11, ATM, HAX1, TSC1, PIK3CD, AKT1, TP53, GDNF, SOS1, HRAS, ETV6, PDGFRB, STAT3, PTEN, PDGFB

Signaling pathways regulating pluripotency of stem cells1.72351e-134.3255

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, IMMUNODEFICIENCY 14, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OLIGODONTIA-COLORECTAL 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, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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}, {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, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, {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, {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

40

NRAS, TGFBR1, SMARCA4, AXIN2, CHEK2, SMAD4, PTEN, PIK3R2, GDNF, BMPR1A, FGFR1, ESR1, PIK3CA, HRAS, PIK3CD, CDH1, KRAS, AXIN1, FGFR4, FGFR2, BRCA1, WNT10A, CCND1, RUNX1, TP53, WT1, MYC, MEN1, TWIST1, APC, AKT1, ZFHX3, RB1, FGFR3, PAX3, CREBBP, STAT3, CTNNB1, PDGFRB, ACVR1B

cGMP-PKG signaling pathway0.002280794.1432

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NOONAN SYNDROME 4, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {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, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

27

MYC, TLR4, AR, PIK3R2, FOXO1, PTPN11, ATM, IL6, PPARG, STAT3, INSR, PRKAR1A, PIK3CD, SOS1, KAT5, BAX, TP53, GNAS, STX11, TGFBR1, EP300, PIK3CA, AKT1, IL1B, ERBB2, ESR1, RB1

Natural killer cell mediated cytotoxicity6.20725e-074.6237

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, 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, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, 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}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, {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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

28

NRAS, NF2, KRAS, MYC, FAS, PIK3R2, IGF2R, PTPN11, SMARCB1, ESR1, PIK3CD, SOS1, TP53, BTK, CBL, IFNG, CASP8, SMARCA4, EP300, PIK3CA, AKT1, HRAS, FASLG, ERBB2, STAT3, BRAF, SH2D1A, RB1

Calcium signaling pathway7.41597e-054.1438

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ANDROGEN INSENSITIVITY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PAPILLARY THYROID CARCINOMA, IMMUNODEFICIENCY 8, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYMPHOPROLIFERATIVE SYNDROME 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, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, 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, 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, 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}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

28

STIM1, CTNNB1, MYC, AR, GNAS, MYD88, ATM, CCND1, CORO1A, PPARG, PRKAR1A, AKT1, CBL, BAX, CD27, GATA2, IL6, SOS1, HRAS, DCC, IL1B, HAX1, CDC73, TNNT2, ERBB2, ADA, BRAF, PDGFRB

Ubiquitin mediated proteolysis0.01634324.923

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, 46XY SEX REVERSAL 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, MULIBREY NANISM, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, 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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

18

ESR1, CBL, BARD1, TRIM37, CCND1, PARK2, AURKA, TP53, VHL, CREBBP, MAP3K1, BCL10, MCM4, BRCA1, EP300, MYC, MYD88, PTPN11

cAMP signaling pathway7.92968e-063.7744

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ALAGILLE SYNDROME, 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, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE 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, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, 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, 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

35

MYC, NME1, PIK3R2, GNAS, PTPN11, RRAS2, IL6, HAX1, PPARG, ESR1, INSR, PRKAR1A, PIK3CD, CDH1, TP53, SOS1, CCND1, PAX7, BDNF, EPHB2, MEN1, EP300, PIK3CA, NBN, AKT1, HRAS, IL1B, JAG1, ADA, RB1, PCNA, CREBBP, STAT3, BRAF, TLR2

Mismatch repair0.0001931937.918

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, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, MISMATCH REPAIR CANCER SYNDROME

8

MSH6, MLH1, MLH3, MYC, PCNA, PMS2, POLD1, MSH2

Endocytosis0.0005955343.8543

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, 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, 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, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA, 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, {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, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

32

RET, KRAS, TP53, CBL, FGFR4, TLR4, PIK3R2, NTRK1, GNAS, PTPN11, IL6, PPARG, INSR, CDH1, TSG101, FGFR2, CCND1, MET, IFNG, MYC, TGFBR1, EP300, PIK3CA, AKT1, HRAS, CDK4, TGFBR2, FGFR3, CREBBP, STAT3, KIT, PDGFRB

Osteoclast differentiation3.53788e-114.4643

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, IMMUNODEFICIENCY 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PROSTATE CANCER 1, NOONAN SYNDROME 4, 46XY SEX REVERSAL 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 1, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CYLINDROMATOSIS, FAMILIAL, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, 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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

36

ERBB2, CTNNB1, TP53, MYC, TLR4, PIK3R2, AKT1, MYD88, FOXO1, BMPR1A, CYLD, PPARG, MAP3K1, PTPN11, PIK3CD, CDK4, KARS, BTK, SOS1, IL6, IFNG, GNAS, CASP8, TGFBR1, EP300, PIK3CA, CDH1, ETV6, IL1B, RNASEL, RB1, ITK, CREBBP, STAT3, TLR2, TGFBR2

Viral myocarditis1.64602e-065.6416

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, 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}, BANNAYAN-RILEY-RUVALCABA 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, 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, {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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

11

FASLG, CCND1, PTEN, HLA-DQB1, CASP8, CD82, MYC, HLA-DQA1, EP300, PIK3CA, IFNG

Infectious diseases: Bacterial1.4839e-112.3173

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, 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}, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CARNEY COMPLEX, TYPE 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, COWDEN SYNDROME 7, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, SMALL CELL CANCER OF THE LUNG, SOMATIC, NOONAN SYNDROME 4, 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}, 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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {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, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

73

FASLG, NME1, SFTPA2, PPARG, SMARCA4, TP53, FGFR2, SFTPA1, DLC1, SERPINA1, CHEK2, FAS, PIK3R2, NTRK1, ETV6, BMPR1A, TJP2, TLR4, ERCC3, IL6, MYD88, CORO1A, CDKN2A, CD82, CCND1, INSR, ERBB2, CARD11, PTPN11, PIK3CD, PRKAR1A, CDH1, CTNNB1, BTK, PDGFRB, RUNX1, ESR1, CBL, BRCA1, ODC1, BAX, MET, RB1, CDKN1B, HLA-DQB1, CASP8, GNAS, BCL10, MYC, TGFBR1, HLA-DQA1, EP300, PIK3CA, POLD1, AKT1, HRAS, DCC, IL1B, CDK4, HIP1, KRAS, IFNG, PTEN, APC, SMAD4, CREBBP, STAT3, TGFBR2, SEC23B, TLR2, SEPT9, PDGFB, SOS1

VEGF signaling pathway0.02624896.0918

OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {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, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NOONAN SYNDROME 4

11

NRAS, KRAS, STAT3, PLA2G2A, PIK3CD, PIK3R2, EP300, PIK3CA, AKT1, SOS1, HRAS

Chagas disease (American trypanosomiasis)2.16243e-104.932

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {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, 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, 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, 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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

28

CTNNB1, CASP8, TLR4, FAS, GNAS, MYD88, PIK3R2, PTPN11, ATM, FGFR1, STAT3, INSR, PIK3CD, AKT1, TP53, BTK, CBL, IL6, IFNG, IL1B, TGFBR1, EP300, PIK3CA, CDK4, FASLG, TGFBR2, ESR1, TLR2

African trypanosomiasis0.0005053766.6817

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, ATAXIA-TELANGIECTASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, BANNAYAN-RILEY-RUVALCABA 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}, 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}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUBEROUS SCLEROSIS 2

11

ATM, FASLG, IL6, IFNG, IL1B, PTPN11, FAS, BTK, MYD88, PTEN, HRAS

Leishmaniasis1.59375e-075.1416

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN 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, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, {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}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, 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}, 46XY SEX REVERSAL 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

16

IL1B, CDK4, HLA-DQA1, IL6, IFNG, CD82, MAP3K1, HLA-DQB1, STAT3, MYC, TGFBR1, TLR4, TLR2, AKT1, MYD88, ERBB2

Amoebiasis3.94225e-064.630

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SMALL CELL CANCER OF THE LUNG, SOMATIC, {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, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, PROTEUS SYNDROME, SOMATIC

25

RB1CC1, TLR4, GNAS, PIK3R2, ATM, VHL, PIK3CD, CDH1, CDKN1B, SOS1, MMP1, IL6, IFNG, CASP8, MYC, TGFBR1, PIK3CA, AKT1, HRAS, IL1B, CDK4, RB1, STAT3, TLR2, COL7A1

Malaria4.25414e-085.7820

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, 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, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, BURKITT LYMPHOMA, BANNAYAN-RILEY-RUVALCABA 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, 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, {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}, 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

20

FASLG, CDK4, MMP1, IL6, CDH1, MET, PTEN, IFNG, IL1B, CD82, CASP8, STAT3, KAT5, PTPN11, MYC, TLR4, TLR2, MYD88, AKT1, PDGFB

Toxoplasmosis2.56517e-134.6133

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, 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, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RUBINSTEIN-TAYBI SYNDROME, 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 MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA

29

KRAS, TP53, CASP8, TLR4, PIK3R2, MYD88, PTPN11, IL6, HAX1, PPARG, ESR1, MAP3K1, CD82, PIK3CD, AKT1, CTNNB1, CCND1, IFNG, IL1B, HLA-DQB1, TGFBR1, PIK3CA, CDK4, FASLG, PDGFRB, CREBBP, STAT3, HLA-DQA1, TLR2

Wnt signaling pathway5.97868e-114.3649

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {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}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, 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, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 4, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 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, THROMBOCYTOPENIA 5, 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

35

TGFBR1, CTNNB1, AXIN2, MYC, SMAD4, FAS, ETV6, AKT1, BMPR1A, ATM, CCND1, PPARG, BRCA1, CDH1, TP53, AXIN1, WNT10A, CARD11, MET, RUNX1, CDKN1B, PCNA, MMP1, GPC3, EP300, GDNF, APC, SOS1, HRAS, CDK4, SNAI2, PTEN, PAX3, CREBBP, STAT3

Infectious diseases: Viral1.02883e-221.84130

PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, 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, BROOKE-SPIEGLER SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, 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}, 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}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?IMMUNODEFICIENCY 16, IMMUNODEFICIENCY, COMMON VARIABLE, 13, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 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, 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, {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, 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}, {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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, 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, 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, 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, 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}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

115

BRCA2, MSH6, MYC, POT1, F5, FAS, GNAS, MYD88, CYLD, PPARG, CD82, PRKAR1A, CDH1, BTK, SOS1, IKZF1, CDKN2A, WT1, IL1B, MMP1, PIK3CA, NBN, POLE, CDC73, ERCC2, ERBB2, CREBBP, BLM, HLA-DQA1, PDGFRB, KRAS, RUNX1, CASP8, LZTR1, NME1, GPC3, WRN, ERCC3, BAX, BUB1B, GATA2, FGFR1, PIK3CD, IFNG, CBL, CCND1, MET, CD27, NKX2-1, TGFBR1, EP300, GDNF, TNFRSF4, SH2D1A, PCNA, STAT3, BRAF, GATA1, MEN1, CTNNB1, SMAD4, ETV6, TJP2, VHL, BRCA1, AKT1, SMARCA4, KAT5, AXIN2, TP53, FASLG, EPHB2, POLD1, CDK4, CDKN1C, PTEN, IL1RN, PAX3, AXIN1, KIT, TLR2, RB1, NRAS, AR, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, BCL10, PTPN11, ATM, RRAS2, MXI1, MAP3K1, INSR, WNT10A, DLC1, MSH2, FGFR2, IL6, CDKN1B, STX11, RET, APC, HRAS, HLA-DQB1, RNASEL, TERT, ATR, ESR1, TGFBR2, TINF2, HFE, PDGFB

Citrate cycle (TCA cycle)0.01739697.528

CARCINOID TUMORS, INTESTINAL, PARAGANGLIOMAS 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PARAGANGLIOMAS 5, LEIOMYOMATOSIS AND RENAL CELL CANCER, PARAGANGLIOMAS 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

7

IDH2, SDHC, SDHB, FH, SDHD, SDHA, IDH1

Immune diseases1.99119e-123.1361

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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, BURKITT LYMPHOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?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, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {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}, 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, DESMOID DISEASE, HEREDITARY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE 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, THYROID DYSHORMONOGENESIS 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {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}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

53

FASLG, TNFRSF13B, ITK, SMARCA4, TP53, MYC, SMAD4, PTEN, AR, FAS, PIK3R2, MYD88, PIK3CA, BMPR1A, ATM, CDKN2A, PPARG, TG, CD82, PTPN11, PIK3CD, CDH1, SMARCB1, KAT5, CCND1, ESR1, CBL, IL6, RUNX1, CDKN1B, CDKN1C, TLR4, HLA-DQB1, NKX2-1, MMP1, EP300, FOXO1, APC, AKT1, HRAS, IL1B, CDK4, IFNG, PDGFRB, XRCC4, PCNA, CREBBP, ADA, STAT3, BTK, HLA-DQA1, TLR2, ERBB2

Neurodegenerative diseases0.001073032.8958

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, 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, ONCOCYTOMA, PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 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, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {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, PARAGANGLIOMAS 5, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RUBINSTEIN-TAYBI SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PARAGANGLIOMAS 4, XERODERMA PIGMENTOSUM, GROUP B, CARCINOID TUMORS, INTESTINAL, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {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, 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, 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, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

48

BARD1, NME1, CTNNB1, RUNX1, MYC, SMAD4, PTEN, SDHC, AR, FAS, GNAS, MYD88, SDHA, ATM, ERCC3, CCND1, HAX1, PPARG, MT-ND6, IL6, PIK3CD, CDH1, AXIN1, SOS1, AIP, SDHD, BAX, PARK2, TP53, BDNF, KAT5, CASP8, TGFBR1, EP300, FOXO1, AKT1, HRAS, IL1B, ERCC2, TNNT2, HIP1, PCNA, CREBBP, ADA, SDHB, TGFBR2, RB1, MT-CO1

Cancers: Overview5.105e-191.35125

PROSTATE CANCER 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, LI-FRAUMENI SYNDROME, NIJMEGEN BREAKAGE SYNDROME, 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}, 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}, {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}, 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}, PEUTZ-JEGHERS SYNDROME, 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, 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, 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, {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, 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, 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, {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, ADRENAL CORTICAL CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {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, 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, 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, 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}, LYMPHOPROLIFERATIVE SYNDROME 2, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

138

TSC2, BRCA2, MSH6, MAD1L1, MYC, POT1, F5, FAS, GNAS, MYD88, MLH1, HAX1, PPARG, CD82, PRKAR1A, CDH1, BTK, STK11, MMP1, CDKN2A, WT1, IL1B, FH, FGFR4, PIK3CA, NBN, JAG1, ERCC2, PDGFRB, CREBBP, MSH2, PTEN, NF2, ERBB2, FGFR3, SMARCA4, RUNX1, FGFR2, CASP8, NME1, GPC3, IDH1, ERCC3, IL6, BUB1B, IGF2R, GATA2, FGFR1, PIK3CD, PTCH2, CD27, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, RAD51, MAX, HIP1, IFNG, RB1, PCNA, STAT3, BRAF, COL7A1, GATA1, TGFBR1, CTNNB1, SUFU, SMAD4, ETV6, PPM1D, FOXO1, TJP2, VHL, BRCA1, AKT1, KRAS, KAT5, ASCL1, CARD11, PARK2, AXIN2, TP53, BRIP1, EPHB2, TWIST1, CDK4, CDKN1C, NF1, IL1RN, PAX3, AXIN1, KIT, TLR2, NRAS, BARD1, AR, SMARCB1, AURKA, CHEK2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, RRAS2, MXI1, NSD1, ESR1, MAP3K1, INSR, WNT10A, SOS1, BLM, TRIM28, BAX, CDKN1B, PHB, BDNF, RET, APC, HRAS, DCC, GDNF, FASLG, RNASEL, NHP2, ATR, TSC1, TGFBR2, ODC1, HFE, DICER1, PDGFB

Cancers: Specific types6.86404e-282.8392

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, DESMOID DISEASE, HEREDITARY, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, 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, OLIGODONTIA-COLORECTAL CANCER SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH 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, 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, SCHOPF-SCHULZ-PASSARGE SYNDROME, 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, {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, BIRT-HOGG-DUBE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, ADRENAL CORTICAL CARCINOMA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, 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, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, MUIR-TORRE SYNDROME, 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}, 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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

88

TSC2, BRCA2, MSH6, FGFR4, MYD88, MLH1, PPARG, PRKAR1A, CDH1, CDKN2A, WT1, FH, MYC, PIK3CA, NBN, JAG1, ERBB2, CREBBP, PDGFRB, KRAS, RUNX1, CASP8, FLCN, AR, BAX, GATA2, FGFR1, PIK3CD, PTCH2, CBL, CCND1, MET, NKX2-1, TGFBR1, EP300, GDNF, MAX, RB1, STAT3, BRAF, COL7A1, MEN1, CTNNB1, SUFU, SMAD4, ETV6, FOXO1, TJP2, VHL, BRCA1, AKT1, SMARCA4, AXIN1, RAD51, AXIN2, TP53, CDK4, IL1B, PTEN, FGFR3, PAX3, KIT, TLR2, NRAS, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, MAP3K1, INSR, WNT10A, SOS1, MSH2, FGFR2, IL6, CDKN1B, PCNA, RET, APC, HRAS, DCC, FASLG, ESR1, TGFBR2, MMP1, PDGFB

Endocrine and metabolic diseases1.58933e-143.460

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CURRARINO SYNDROME, 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, LEPRECHAUNISM, PEUTZ-JEGHERS 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, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PARAGANGLIOMAS 3, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PARAGANGLIOMAS 5, TUBEROUS SCLEROSIS-1, PARAGANGLIOMAS 4, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {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}, 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, CARCINOID TUMORS, INTESTINAL, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, 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, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

50

FASLG, SDHD, SMARCA4, TP53, MYC, SMAD4, SDHC, AR, FAS, PIK3R2, BCL10, PIK3CA, PTPN11, INSR, SMARCB1, BAX, GATA2, PPARG, STAT3, SDHA, SDHB, CD82, PIK3CD, MNX1, AKT1, CTNNB1, CCND1, ESR1, CBL, STK11, IL6, IFNG, IL1B, PCNA, CASP8, MEN1, EP300, FOXO1, PTEN, HRAS, HLA-DQB1, RB1, PTPRJ, CREBBP, TSC1, TGFBR2, HLA-DQA1, TLR2, ERBB2, MT-CO1

Gap junction0.02662475.1326

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LI-FRAUMENI 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, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, 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, {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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

14

NRAS, ERCC3, FOXO1, PDGFRB, CBL, STAT3, PDGFB, HRAS, GNAS, KRAS, MYD88, TP53, AXIN1, SOS1

Substance dependence3.154e-053.5256

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, 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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {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, NEUROFIBROMATOSIS, TYPE 1, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, 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, 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}, 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, PAPILLARY THYROID CARCINOMA, 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, {GLIOMA SUSCEPTIBILITY 9}, {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}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

38

NRAS, SMARCA4, MYC, POT1, PTEN, GNAS, FOXO1, ATM, SMARCB1, CCND1, BUB1B, PPARG, INSR, CD82, PRKAR1A, PIK3CD, AKT1, CTNNB1, KAT5, CDKN2A, PARK2, NF1, BDNF, TGFBR1, IL6, PIK3CA, NBN, SOS1, HRAS, DCC, KRAS, ADA, ERBB2, SMAD4, CREBBP, ESR1, BRAF, RB1

Cardiovascular diseases2.18073e-093.8643

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, 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, IMMUNODEFICIENCY 14, PEUTZ-JEGHERS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, 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 MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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, 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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

32

CTNNB1, MYC, SMAD4, GNAS, AKT1, PTPN11, TJP2, SMARCB1, IL6, CD82, PIK3CD, SOS1, IFNG, KAT5, CBL, STK11, CCND1, TP53, HLA-DQB1, CASP8, TGFBR1, EP300, PIK3CA, CDH1, HRAS, IL1B, TNNT2, ERBB2, CREBBP, ESR1, HLA-DQA1, PTEN

Systemic lupus erythematosus1.37157e-064.9926

ATAXIA-TELANGIECTASIA, PANCREATIC CANCER/MELANOMA SYNDROME, {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, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DESMOID DISEASE, HEREDITARY, 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, 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, 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, {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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

16

ATM, HLA-DQB1, SMARCB1, HLA-DQA1, CDKN2A, RUNX1, IFNG, TP53, MYC, CD82, MMP1, SMARCA4, AKT1, APC, ERBB2, KAT5

Rheumatoid arthritis2.02632e-134.8734

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {MELANOMA, CUTANEOUS MALIGNANT, 3}, 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, 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}, 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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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, {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}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

26

MYC, SMAD4, FAS, PIK3R2, PTPN11, CD82, CDK4, TP53, CBL, IL6, IFNG, IL1B, HLA-DQB1, MMP1, TGFBR1, EP300, PIK3CA, CDH1, HRAS, FASLG, PDGFRB, TLR4, STAT3, HLA-DQA1, TLR2, PTEN

Autoimmune thyroid disease2.3312e-075.815

TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {CELIAC DISEASE, 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, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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, THYROID DYSHORMONOGENESIS 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

11

FASLG, IL6, IFNG, TG, HLA-DQB1, STAT3, PTPN11, HLA-DQA1, FAS, PIK3CA, HRAS

Inflammatory bowel disease (IBD)4.25051e-115.5515

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 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, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN 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, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

17

HLA-DQB1, CDK4, IL6, PPARG, IFNG, IL1B, ITK, ESR1, TLR4, STAT3, CREBBP, HLA-DQA1, EP300, PIK3CA, MYD88, TLR2, KAT5

Toll-like receptor signaling pathway0.0003472685.0329

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, 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, 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}, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

20

FASLG, IL6, RB1, IFNG, IL1B, TP53, STAT3, CREBBP, BTK, ESR1, PTEN, CASP8, PIK3CD, PIK3R2, TLR4, PIK3CA, AKT1, MYD88, CTNNB1, TLR2

NOD-like receptor signaling pathway3.97815e-055.8526

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, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, 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, {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}, PROTEUS SYNDROME, SOMATIC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

16

FASLG, IL6, PPARG, TSG101, IL1B, TP53, TLR2, CASP8, PRKAR1A, MYC, CTNNB1, AKT1, BCL10, PTEN, HRAS, AURKA

RIG-I-like receptor signaling pathway0.008863115.822

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 46XY SEX REVERSAL 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, BROOKE-SPIEGLER SYNDROME, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, CYLINDROMATOSIS, FAMILIAL, TUBEROUS SCLEROSIS 2, {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, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 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, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

13

FASLG, CYLD, CCND1, MYC, IFNG, CDKN1B, TP53, CREBBP, CASP8, MAP3K1, TLR2, AKT1, CTNNB1

Staphylococcus aureus infection5.66917e-055.6414

ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, BURKITT LYMPHOMA, 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, 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}, PROTEUS SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

9

HLA-DQB1, ERBB2, RUNX1, MYC, CD82, HLA-DQA1, AKT1, APC, IFNG

Tuberculosis5.56258e-093.8235

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, 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}, 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, IMMUNODEFICIENCY 8, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, ADRENAL CORTICAL CARCINOMA, 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, {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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

33

CTNNB1, TP53, MYC, TLR4, FAS, BCL10, BAX, MYD88, CORO1A, ESR1, CD82, AKT1, SMARCA4, BTK, IL6, IFNG, IL1B, CASP8, HLA-DQB1, CHEK2, TGFBR1, EP300, PIK3CA, CDK4, HRAS, FASLG, KRAS, ERBB2, CREBBP, STAT3, HLA-DQA1, TLR2, PDGFRB

Huntington's disease0.03579174.2628

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, ATAXIA-TELANGIECTASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, PARAGANGLIOMAS 5, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, 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, 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, PARAGANGLIOMAS 4, CARCINOID TUMORS, INTESTINAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, 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, {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

22

AR, MYC, SDHD, SDHA, ATM, IL6, PPARG, SDHC, AKT1, KAT5, BAX, TP53, BDNF, CASP8, EP300, ERCC2, TNNT2, HIP1, CREBBP, SDHB, RB1, MT-CO1

Pertussis0.0003453465.1626

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, 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, 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, THROMBOCYTOPENIA 5, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

19

FASLG, SFTPA1, IL6, IFNG, IL1B, RUNX1, ESR1, MYC, STAT3, PTEN, SFTPA2, CASP8, PIK3CD, TLR4, ETV6, AKT1, MYD88, TP53, TLR2

Legionellosis0.002917015.7419

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {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, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, 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}, 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, PROTEUS SYNDROME, SOMATIC

14

IL1B, IL6, CCND1, SMAD4, CASP8, TLR4, PRKAR1A, MYC, EP300, PIK3CA, AKT1, MYD88, TLR2, HRAS

Allograft rejection7.20911e-056.413

{AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TUBEROUS SCLEROSIS 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}

5

FAS, FASLG, IFNG, HLA-DQB1, HLA-DQA1

Jak-STAT signaling pathway2.24445e-074.5935

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EMBERGER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 21, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, {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, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, 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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

29

GATA1, RUNX1, MYC, SMAD4, PIK3R2, BCL10, PTPN11, CCND1, MYD88, GATA2, STAT3, BMPR1A, PIK3CD, AKT1, KAT5, CBL, IL6, IFNG, PCNA, EP300, PIK3CA, SOS1, HRAS, ERBB2, TLR4, CREBBP, ESR1, BTK, PDGFRB

Tight junction0.02950954.4831

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, 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, {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, PAPILLARY THYROID CARCINOMA, 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, 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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

21

PCNA, TJP2, CDK4, RRAS2, CCND1, MYC, TNNT2, CBL, CTNNB1, SMAD4, ESR1, NRAS, STAT3, CDH1, LZTR1, HRAS, BRAF, AKT1, KRAS, PTEN, AXIN1

Nervous system1.14357e-052.4771

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?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, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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 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, RUBINSTEIN-TAYBI SYNDROME, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, PITUITARY ADENOMA, PROLACTIN-SECRETING, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, 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, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ?N SYNDROME, 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

63

TSC2, ERBB2, PPARG, CTNNB1, RUNX1, NRAS, MYC, SMAD4, CREBBP, AR, PIK3R2, NTRK1, PIK3CA, PLA2G2A, ATM, BAX, BCL10, HAX1, CDKN2A, INSR, MAP3K1, MET, CD82, PTPN11, PIK3CD, AKT1, KRAS, BTK, SOS1, AIP, ESR1, CBL, FGFR1, CCND1, IL6, PARK2, RB1, TP53, FASLG, TLR4, KIT, BDNF, KAT5, TGFBR1, EP300, FOXO1, APC, CDH1, HRAS, ETV6, IL1B, GNAS, PDGFRB, FGFR3, PCNA, CYP2D6, STAT3, AXIN1, BRAF, ACD, TLR2, PTEN, POLA1

Excretory system6.90685e-074.3542

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {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, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 7, 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, ADRENAL CORTICAL CARCINOMA, {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, 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}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

29

KRAS, MYC, AR, PIK3R2, GNAS, ATM, RRAS2, PDGFRB, GDNF, FGFR1, ESR1, INSR, PIK3CD, AKT1, CBL, BAX, TP53, BDNF, IL6, PIK3CA, SOS1, HRAS, IL1B, NF1, PCNA, CREBBP, STAT3, SEC23B, RB1

Neurotrophin signaling pathway4.035e-084.737

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PROTEUS SYNDROME, SOMATIC, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AGAMMAGLOBULINEMIA, X-LINKED 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, 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, CHOROID PLEXUS PAPILLOMA

28

NRAS, KRAS, PIK3R2, NTRK1, ETV6, PTPN11, CCND1, PPARG, MAP3K1, INSR, PIK3CD, SOS1, CTNNB1, BTK, BAX, TP53, IL1B, BDNF, PIK3CA, AKT1, HRAS, FASLG, ERBB2, FGFR3, PCNA, STAT3, BRAF, TLR2

Central carbon metabolism in cancer2.22138e-136.040

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, IMMUNODEFICIENCY 14, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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}, 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, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, 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, {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}, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

24

NRAS, KRAS, MYC, PTEN, PIK3R2, NTRK1, IDH1, FGFR1, PIK3CD, CDH1, FGFR2, CCND1, MET, TP53, PCNA, RET, PIK3CA, AKT1, HRAS, PDGFRB, FGFR3, STAT3, KIT, ERBB2

Endocrine system9.14365e-081.8495

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, NIJMEGEN BREAKAGE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LEPRECHAUNISM, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PEUTZ-JEGHERS SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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, 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, 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, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, THYROID DYSHORMONOGENESIS 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, {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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, 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}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, NEUROCUTANEOUS MELANOSIS, SOMATIC, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

92

TSC2, MAD1L1, MYC, POT1, GNAS, HAX1, PPARG, PRKAR1A, CDH1, BTK, SOS1, STK11, CDKN2A, WT1, FH, MMP1, PIK3CA, NBN, POLE, ERBB2, CREBBP, TGFBR2, PCNA, KRAS, RUNX1, AR, PLA2G2A, BAX, BUB1B, CORO1A, FGFR1, PIK3CD, CBL, CCND1, IFNG, NKX2-1, TGFBR1, EP300, FOXO1, RB1, BDNF, STAT3, BRAF, MT-CO1, MEN1, CTNNB1, NRAS, SMAD4, ETV6, GDNF, TJP2, PDGFRB, VHL, TG, BRCA1, AKT1, SMARCA4, KAT5, PARK2, AXIN2, TP53, CDK4, IL1B, RPS19, PTEN, PAX3, AXIN1, KIT, TLR2, SERPINC1, BARD1, SMARCB1, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, BCL10, ESR1, MAP3K1, INSR, WNT10A, DLC1, IL6, CDKN1B, STX11, HRAS, ATR, TSC1, ODC1, GATA2

Immune system2.84429e-171.64113

BROOKE-SPIEGLER SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, LI-FRAUMENI SYNDROME, 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, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, 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, {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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, 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}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {BUDD-CHIARI 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, 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, {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, 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, 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, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {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, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, 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, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, LYMPHOPROLIFERATIVE SYNDROME 2, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THROMBOCYTOPENIA 5, XERODERMA PIGMENTOSUM, GROUP D, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

115

MSH6, MYC, POT1, F5, FAS, GNAS, MYD88, BMPR1A, CYLD, PPARG, CD82, PRKAR1A, CDK4, CTNNB1, BTK, CDKN2A, IL1B, MMP1, PIK3CA, SNAI2, ERCC2, PDGFRB, CREBBP, HLA-DQA1, ERBB2, NF2, XRCC4, KRAS, RUNX1, RB1CC1, SERPINA1, NME1, WRN, PLA2G2A, ERCC3, BAX, IGF2R, CORO1A, PIK3CD, IFNG, CBL, SMARCE1, CCND1, MET, CD27, TGFBR1, EP300, FOXO1, HIP1, TNNT2, SH2D1A, ITK, PCNA, STAT3, BRAF, COL7A1, GATA1, TNFRSF13B, STIM1, MEN1, PTPRJ, TSG101, NRAS, SMAD4, ETV6, PPM1D, TJP2, BRCA1, AKT1, SMARCA4, KAT5, CARD11, PARK2, KARS, FASLG, CASP8, CDH1, CDKN1C, PTEN, IL1RN, KIT, TLR2, RB1, SERPINC1, AR, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, PTPN12, BCL10, DICER1, MAP3K1, INSR, SOS1, TP53, MSH2, FGFR2, TINF2, IL6, CDKN1B, STX11, APC, HRAS, DCC, HLA-DQB1, NHP2, ATR, ESR1, ODC1, HFE

Cellular community6.40882e-132.291

{SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, 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, 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, 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, OLIGODONTIA-COLORECTAL CANCER SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, 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, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, 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, SCHOPF-SCHULZ-PASSARGE SYNDROME, 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, IMMUNODEFICIENCY 8, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, ALAGILLE SYNDROME, {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, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, 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, XERODERMA PIGMENTOSUM, GROUP B, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, THROMBOCYTOPENIA 5, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

88

FGFR4, GNAS, MYD88, BMPR1A, HAX1, CDH1, BTK, CDKN2A, WT1, MYC, PIK3CA, SNAI2, JAG1, ERBB2, CREBBP, BAP1, TGFBR2, PTPRJ, SMARCA4, RUNX1, RB1CC1, LZTR1, AR, ERCC3, CORO1A, FGFR1, PIK3CD, CBL, CCND1, MET, TGFBR1, EP300, GDNF, MAX, TNNT2, RB1, STAT3, BRAF, ACVR1B, MEN1, CTNNB1, SMAD4, ETV6, FOXO1, TJP2, PDGFRB, VHL, HRAS, BRCA1, AKT1, KRAS, AXIN1, CARD11, AXIN2, TP53, EPHB2, TWIST1, CDK4, IL1B, PTEN, FGFR3, SERPINA1, KAT5, KIT, TLR2, NRAS, AURKA, CHEK2, PAX3, PIK3R2, PTPN11, ATM, RRAS2, MAP3K1, INSR, WNT10A, SOS1, FGFR2, IL6, PCNA, RET, APC, ZFHX3, ATR, ESR1, COL7A1, GATA2, PDGFB

Development2.19555e-133.2471

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, IMMUNODEFICIENCY 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, GLIOMA SUSCEPTIBILITY 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PLEUROPULMONARY BLASTOMA, BECKWITH-WIEDEMANN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NEUROFIBROMATOSIS-NOONAN SYNDROME, 46XY SEX REVERSAL 6, ANDROGEN INSENSITIVITY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, NEUROFIBROMATOSIS, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, PROSTATE CANCER 1, 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, IMMUNODEFICIENCY 8, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BROOKE-SPIEGLER SYNDROME, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, CYLINDROMATOSIS, FAMILIAL, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, {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, 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

61

NF1, GATA1, NRAS, CYLD, ERBB2, PPARG, CTNNB1, TP53, FGFR2, MYC, RUNX1, CREBBP, AR, PTPRJ, PIK3R2, MYD88, FOXO1, BMPR1A, KRAS, ITK, CORO1A, FGFR1, ESR1, MAP3K1, PTPN11, PIK3CD, BAP1, AKT1, IFNG, BTK, SOS1, CCND1, CBL, IL6, MET, FASLG, KARS, IL1B, CASP8, GNAS, EPHB2, TGFBR1, EP300, PIK3CA, PTEN, HRAS, ETV6, DCC, CDKN1C, CDK4, RNASEL, PDGFRB, FGFR3, TLR4, ATR, STAT3, CDH1, TGFBR2, TLR2, RB1, DICER1

Aldosterone-regulated sodium reabsorption0.007418276.8818

NEUROFIBROMATOSIS-NOONAN SYNDROME, IMMUNODEFICIENCY 14, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEUROFIBROMATOSIS, TYPE 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, LEPRECHAUNISM, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

9

KRAS, NF1, INSR, MYC, STAT3, PIK3CA, PIK3CD, PIK3R2, AKT1

TGF-beta signaling pathway2.97132e-065.329

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, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, PROTEUS SYNDROME, 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}, {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, 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, 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}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

21

BMPR1A, SMAD4, CDK4, CCND1, IFNG, CDH1, TP53, PPARG, ESR1, MYC, CDKN1B, CREBBP, PCNA, PTEN, FGFR1, AXIN1, TGFBR1, EP300, AKT1, TGFBR2, ACVR1B

Renal cell carcinoma6.56175e-085.7428

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BIRT-HOGG-DUBE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {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, LEIOMYOMATOSIS AND RENAL CELL CANCER, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 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 MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, PAPILLARY THYROID CARCINOMA, NEUROCUTANEOUS MELANOSIS, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, 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, {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}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

20

FH, NRAS, PIK3CD, CCND1, MET, KRAS, VHL, CREBBP, BRAF, FLCN, CDH1, HRAS, TGFBR1, PIK3R2, EP300, SOS1, AKT1, PTPN11, PIK3CA, PDGFB

Cell cycle2.67216e-125.1340

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, 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, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, BURKITT LYMPHOMA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, {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, {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}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

29

TSC2, BARD1, MEN1, SMARCA4, MAD1L1, MYC, SMAD4, CREBBP, ATM, CCND1, BUB1B, HRAS, BRCA1, CDH1, TP53, CDKN2A, CDKN1B, PCNA, CHEK2, TGFBR1, EP300, SOS1, MCM4, CDKN1C, CDK4, TGFBR2, ATR, ESR1, RB1

Oocyte meiosis0.004922875.0327

ATAXIA-TELANGIECTASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PREMATURE OVARIAN FAILURE 8, ANDROGEN INSENSITIVITY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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}, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, PROTEUS SYNDROME, SOMATIC, CHOROID PLEXUS PAPILLOMA

18

ATM, MAD1L1, STAG3, PIK3CD, SMARCA4, TP53, AURKA, AR, MYC, GNAS, ESR1, BRCA1, FOXO1, SOS1, AKT1, PPM1D, CTNNB1, HRAS

p53 signaling pathway2.51834e-115.7129

ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, {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, BANNAYAN-RILEY-RUVALCABA SYNDROME, ADRENAL CORTICAL CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

22

TSC2, RUNX1, CASP8, CHEK2, FAS, PPM1D, ATM, CDKN2A, PPARG, CD82, BRCA1, CDK4, TP53, KAT5, CCND1, BAX, CDKN1B, PCNA, MYC, FOXO1, PTEN, ATR

Signal transduction8.95073e-120.87139

PROSTATE CANCER 1, 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, 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, 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}, 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, IMMUNODEFICIENCY 24, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ?IMMUNODEFICIENCY 16, BROOKE-SPIEGLER SYNDROME, {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, 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, 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, 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}, {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, 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, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, 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, 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}, 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, 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, TYROSINEMIA, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, 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}, 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, XERODERMA PIGMENTOSUM, GROUP D, 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

157

TSC2, MSH6, MAD1L1, MYC, MT-CO1, POT1, FAS, GNAS, MYD88, BMPR1A, MLH1, CYLD, PPARG, CD82, PRKAR1A, CDH1, CTNNB1, BTK, IKZF1, STK11, CDKN2A, WT1, IL1B, CASP8, FGFR4, PIK3CA, NBN, POLE, CDC73, ERCC2, SNAI2, PDGFRB, CREBBP, BAP1, PTEN, PCNA, NF2, ERBB2, IL1RN, SMARCA4, RUNX1, RB1CC1, DLC1, SERPINA1, NME1, GPC3, WRN, PLA2G2A, ERCC3, BAX, GATA2, FGFR1, PIK3CD, PTCH2, CD27, ESR1, CBL, SMARCE1, CCND1, MET, PAX7, NKX2-1, MEN1, EP300, FOXO1, MAX, TNFRSF4, TNNT2, RB1, ITK, STX11, STAT3, FAH, BRAF, HAX1, ACVR1B, GATA1, STIM1, TGFBR1, PTPRJ, TSG101, NRAS, SUFU, SMAD4, ETV6, PPM1D, GDNF, TJP2, VHL, KIF1B, BRCA1, AKT1, KRAS, KAT5, AIP, ASCL1, CARD11, PARK2, AXIN2, TP53, GJB2, TWIST1, IFNG, POLD1, CTPS1, CDKN1C, NF1, FGFR3, PAX3, ABCB11, AXIN1, KIT, TLR2, POLA1, SERPINC1, AR, SMARCB1, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, JAG1, PTPN11, ATM, PTPN12, RRAS2, MXI1, BCL10, EXT2, MAP3K1, INSR, WNT10A, SOS1, MSH2, FGFR2, TINF2, IL6, CDKN1B, PHB, BDNF, RET, APC, HRAS, DCC, FASLG, CDK4, RNASEL, ADA, ATR, TSC1, TGFBR2, COL7A1, ODC1, MMP1, CORO1A, PDGFB

Signaling molecules and interaction7.1147e-081.9281

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, 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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, ?IMMUNODEFICIENCY 16, {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, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, LYMPHOPROLIFERATIVE SYNDROME 2, 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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, LI-FRAUMENI SYNDROME, RUBINSTEIN-TAYBI 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, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {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, PROTEUS SYNDROME, SOMATIC

84

EDARADD, FASLG, TNFRSF13B, NF2, TGFBR1, PAX7, PPARG, CTNNB1, AURKA, FGFR2, RB1CC1, DLC1, STX11, EP300, SMAD4, CREBBP, AR, FAS, PTPRJ, PIK3R2, AKT1, MYD88, PIK3CA, BMPR1A, ATM, TJP2, CDKN2A, HAX1, VHL, CD27, COL7A1, CD82, ERBB2, PTPN11, BRCA1, CDH1, BTK, MMP1, TSG101, KAT5, CCND1, ESR1, CBL, GATA1, BAX, HMMR, MET, IL6, CDKN1B, WT1, TNFRSF4, TLR4, RUNX1, GNAS, PCNA, SERPINA1, PAX3, MYC, EPHB2, GATA2, RET, FOXO1, TP53, PTEN, HRAS, DCC, HLA-DQB1, CDK4, SNAI2, TGFBR2, IFNG, PDGFRB, IL1B, IL1RN, BDNF, NME1, STAT3, CASP8, ACVR1B, HLA-DQA1, KIT, TLR2, NHP2, PDGFB

Adherens junction1.23739e-055.4624

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, PIEBALDISM, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, 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, {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, {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, 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}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

19

SNAI2, CARD11, MET, FGFR1, ERBB2, PTPRJ, SMAD4, MYC, EP300, ESR1, CDH1, CREBBP, TGFBR1, KIT, CTNNB1, AKT1, TGFBR2, HRAS, INSR

Inflammatory mediator regulation of TRP channels1.52068e-054.9230

ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, OLMSTED SYNDROME, 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, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

21

ATM, CBL, BAX, IL6, TRPV3, TP53, IL1B, CTNNB1, MYC, GNAS, ESR1, PTPN11, PIK3CD, PIK3R2, PLA2G2A, STAT3, PIK3CA, AKT1, NTRK1, SOS1, HRAS

Small cell lung cancer7.91398e-095.2237

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {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, IMMUNODEFICIENCY 14, 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, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, {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, 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, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

24

CTNNB1, AURKA, MYC, SMAD4, PIK3R2, MYD88, VHL, MAP3K1, PIK3CD, AKT1, CDKN1B, CCND1, TP53, PCNA, PIK3CA, CDK4, HRAS, MAX, RB1, TLR4, CREBBP, ESR1, PTEN, COL7A1

Acute myeloid leukemia1.98558e-126.0133

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY 14, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, 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, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

22

GATA1, NRAS, KRAS, RUNX1, MYC, TLR4, PIK3R2, STAT3, PIK3CD, AKT1, CTNNB1, CCND1, EP300, PIK3CA, SOS1, HRAS, RB1, SMAD4, CREBBP, ESR1, BRAF, KIT

Chronic myeloid leukemia2.05651e-175.7143

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, NOONAN SYNDROME 4, PANCREATIC CANCER/MELANOMA SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, 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}, {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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ADRENAL CORTICAL CARCINOMA, 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, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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, {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

29

NRAS, KRAS, AURKA, MYC, SMAD4, PTEN, PIK3R2, PTPN11, CDKN2A, PIK3CD, CDH1, TP53, SOS1, CBL, CCND1, RUNX1, CDKN1B, TGFBR1, EP300, PIK3CA, AKT1, HRAS, CDK4, ERBB2, CREBBP, ESR1, TGFBR2, BRAF, RB1

Primary immunodeficiency0.009044686.2612

AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, IMMUNODEFICIENCY, COMMON VARIABLE, 2, 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, BURKITT LYMPHOMA, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL

10

CBL, CCND1, ADA, IFNG, TNFRSF13B, CREBBP, MYC, FOXO1, SMARCA4, BTK

Cell motility5.43322e-053.7344

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, LEPRECHAUNISM, {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, 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, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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, 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}, 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, PAPILLARY THYROID CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, 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

36

NRAS, KRAS, CBL, MYC, POT1, PTEN, NME1, PIK3R2, PIK3CA, RRAS2, FGFR1, ESR1, INSR, PIK3CD, CDH1, CTNNB1, SOS1, FGFR4, FGFR2, BAX, TLR4, EPHB2, TGFBR1, GDNF, APC, AKT1, HRAS, FASLG, PDGFRB, FGFR3, SMAD4, STAT3, BRAF, TLR2, ERBB2, PDGFB

Cell growth and death9.7058e-233.3173

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, 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, SMALL CELL CANCER OF THE LUNG, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 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, 46XY SEX REVERSAL 6, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, CARNEY COMPLEX, TYPE 1, PREMATURE OVARIAN FAILURE 8, RUBINSTEIN-TAYBI SYNDROME, 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}, WERNER SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {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}, 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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHOROID PLEXUS PAPILLOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {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, 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, 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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

70

FASLG, TSC2, ATM, BARD1, FGFR1, CTNNB1, AURKA, MAD1L1, MYC, SMAD4, PTEN, CREBBP, AR, FAS, STAG3, PIK3R2, PPM1D, WRN, PTPN11, SMARCA4, CDKN2A, BUB1B, NTRK1, HAX1, PPARG, INSR, MAP3K1, CD82, PIK3CA, MCM4, PIK3CD, PRKAR1A, AKT1, MXI1, IFNG, KAT5, PDGFRB, CCND1, ESR1, TRIM28, STK11, BRCA1, BAX, IL6, CDKN1B, IL1B, CASP8, RUNX1, GNAS, PCNA, BCL10, CHEK2, MEN1, EP300, FOXO1, TP53, POLD1, CDH1, HRAS, CDKN1C, CDK4, ERCC2, RB1, TLR4, ATR, STAT3, ODC1, TGFBR2, MYD88, SOS1

Regulation of actin cytoskeleton5.43322e-053.7344

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, LEPRECHAUNISM, {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, 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, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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, 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}, 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, PAPILLARY THYROID CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, 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

36

NRAS, KRAS, CBL, MYC, POT1, PTEN, NME1, PIK3R2, PIK3CA, RRAS2, FGFR1, ESR1, INSR, PIK3CD, CDH1, CTNNB1, SOS1, FGFR4, FGFR2, BAX, TLR4, EPHB2, TGFBR1, GDNF, APC, AKT1, HRAS, FASLG, PDGFRB, FGFR3, SMAD4, STAT3, BRAF, TLR2, ERBB2, PDGFB

Alcoholism7.74699e-074.4341

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, NEUROFIBROMATOSIS, TYPE 1, NIJMEGEN BREAKAGE 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, 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, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PAPILLARY THYROID CARCINOMA, 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, {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, PROTEUS SYNDROME, SOMATIC, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

28

NRAS, KRAS, SMAD4, GNAS, ATM, SMARCA4, BUB1B, INSR, PIK3CD, AKT1, CTNNB1, KAT5, IL6, PARK2, RB1, BDNF, TGFBR1, PIK3CA, NBN, SOS1, HRAS, DCC, ADA, NF1, ESR1, BRAF, ERBB2, SMARCB1

Phagosome4.7844e-094.0832

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, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, 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, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LYMPHOPROLIFERATIVE 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}, 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, ALAGILLE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA, X-LINKED 1, 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}, {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, 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}, PROTEUS SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA

30

SFTPA2, MYC, TLR4, CHEK2, MYD88, PTPN11, ERCC3, CORO1A, ESR1, MAP3K1, CD82, CDH1, TP53, BTK, CBL, IL6, IFNG, STX11, SFTPA1, AKT1, HRAS, HLA-DQB1, JAG1, ERBB2, ITK, MSR1, HLA-DQA1, TLR2, PDGFRB, PDGFB

Melanoma4.32159e-185.6742

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PANCREATIC CANCER/MELANOMA SYNDROME, {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, IMMUNODEFICIENCY 14, 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, PAPILLARY THYROID CARCINOMA, 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}, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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, SCHOPF-SCHULZ-PASSARGE SYNDROME, 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, 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, CHOROID PLEXUS PAPILLOMA

30

NRAS, ERBB2, PPARG, KRAS, MYC, PTEN, PIK3R2, CCND1, FGFR1, ESR1, INSR, WNT10A, CDH1, FGFR2, PIK3CD, CDKN2A, MET, TP53, PCNA, FGFR4, PIK3CA, AKT1, HRAS, CDK4, RB1, FGFR3, STAT3, BRAF, PDGFRB, PDGFB

Bladder cancer6.51582e-136.7734

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PANCREATIC CANCER/MELANOMA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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}, LI-FRAUMENI SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PAPILLARY THYROID CARCINOMA, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, 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, ADRENAL CORTICAL CARCINOMA, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

18

SMARCA4, GATA1, NRAS, CDK4, KRAS, CDKN2A, CCND1, RB1, ERBB2, FGFR3, CREBBP, MMP1, CDH1, MYC, BRAF, AKT1, TP53, HRAS

Focal adhesion4.98981e-053.8741

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, 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, 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, {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, THROMBOCYTOPENIA 5, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

34

CTNNB1, AURKA, RB1CC1, PIK3R2, AKT1, FOXO1, PDGFRB, VHL, ESR1, INSR, PIK3CD, CDH1, KAT5, SOS1, CBL, CCND1, MET, TP53, MYC, TGFBR1, IL6, PIK3CA, PTEN, HRAS, ETV6, IL1B, SNAI2, TNNT2, ERBB2, STAT3, COL7A1, BRAF, TGFBR2, PDGFB

Antigen processing and presentation3.05993e-065.4420

{RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANDROGEN INSENSITIVITY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, {CELIAC DISEASE, 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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, 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, {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, CHOROID PLEXUS PAPILLOMA, ADRENAL CORTICAL CARCINOMA, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}

12

SMARCA4, HLA-DQB1, CCND1, IL6, SMARCB1, TP53, HLA-DQA1, MYC, CD82, AR, IFNG, PTPN11

Pancreatic cancer8.74516e-145.7843

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, IMMUNODEFICIENCY 14, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PANCREATIC CANCER/MELANOMA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PAPILLARY THYROID CARCINOMA, 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 MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY 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, {GLIOBLASTOMA 3}, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {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, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

25

BRCA2, KRAS, AURKA, MYC, SMAD4, PIK3R2, RAD51, CDKN2A, STAT3, PIK3CD, CDK4, TP53, CCND1, CDKN1B, TGFBR1, PIK3CA, AKT1, HRAS, BAX, RB1, CREBBP, ESR1, TGFBR2, BRAF, ERBB2

Endometrial cancer2.63454e-156.1140

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, 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}, LYNCH SYNDROME I, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, 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, 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, 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

24

NRAS, KRAS, AXIN2, MYC, SMAD4, PIK3R2, MLH1, INSR, PIK3CD, CDH1, CTNNB1, AXIN1, SOS1, CCND1, TP53, EP300, PIK3CA, APC, AKT1, HRAS, ERBB2, ESR1, BRAF, PTEN

Colorectal cancer4.9378e-185.7841

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, 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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OLIGODONTIA-COLORECTAL CANCER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, MUIR-TORRE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DESMOID DISEASE, HEREDITARY, 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 MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LYNCH SYNDROME I, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, 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, 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, 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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

28

MSH6, KRAS, AXIN2, MYC, SMAD4, PIK3R2, CCND1, MLH1, ESR1, MAP3K1, PIK3CD, AKT1, CTNNB1, AXIN1, BAX, TP53, PCNA, TGFBR1, PIK3CA, APC, CDK4, HRAS, DCC, TGFBR2, CREBBP, STAT3, MSH2, BRAF

Asthma6.2904e-056.683

{CELIAC DISEASE, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TUBEROUS SCLEROSIS 2

4

IFNG, HLA-DQB1, PTPN11, HLA-DQA1

Thyroid cancer5.41254e-106.8830

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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, 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, 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, NEUROCUTANEOUS MELANOSIS, 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, {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}, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

16

NRAS, KRAS, BRAF, CCND1, TP53, PPARG, NKX2-1, MYC, ESR1, SMAD4, RET, EP300, CDH1, NTRK1, CTNNB1, HRAS

Basal cell carcinoma0.0001976816.0724

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 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, DESMOID DISEASE, HEREDITARY, 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, 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, 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}, SCHOPF-SCHULZ-PASSARGE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

13

CDH1, CTNNB1, AXIN2, PAX3, SUFU, SMAD4, PTEN, MYC, WNT10A, PTCH2, APC, TP53, AXIN1

Glioma3.73595e-125.9738

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, {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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, 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}, 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, 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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

22

NRAS, ERBB2, KRAS, MYC, PIK3R2, AKT1, CDKN2A, STAT3, PIK3CD, CDK4, SOS1, CCND1, TP53, PCNA, PIK3CA, PTEN, HRAS, RB1, ESR1, BRAF, PDGFRB, PDGFB

Prostate cancer8.20703e-155.3245

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, NOONAN SYNDROME 4, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, PAPILLARY THYROID CARCINOMA, 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}, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, 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, {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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

31

NRAS, KRAS, AURKA, CBL, MYC, SMAD4, PTEN, AR, PIK3R2, FOXO1, PDGFRB, FGFR1, INSR, IL6, PIK3CD, AKT1, CTNNB1, FGFR2, CCND1, CDKN1B, EP300, PIK3CA, TP53, SOS1, HRAS, ERBB2, CREBBP, ESR1, BRAF, RB1, PDGFB

Cell adhesion molecules (CAMs)0.003800724.0230

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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, 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, 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}, {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}, 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, 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, {CELIAC DISEASE, 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}, 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, PROTEUS SYNDROME, SOMATIC

20

AR, FASLG, HLA-DQB1, IL6, CCND1, CDH1, IFNG, PPARG, SNAI2, MYC, SMAD4, CD82, PTEN, HRAS, TGFBR1, HLA-DQA1, FOXO1, MMP1, AKT1, PTPN11

FoxO signaling pathway1.62869e-164.2557

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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PEUTZ-JEGHERS 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, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, 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, IMMUNODEFICIENCY 14, TUBEROUS SCLEROSIS-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, PAPILLARY THYROID CARCINOMA, 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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, 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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {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, 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

46

NRAS, ERBB2, FGFR1, KRAS, TP53, MYC, SMAD4, PTEN, AR, PIK3R2, FOXO1, PTPN11, ATM, SMARCB1, IL6, PPARG, STAT3, INSR, BRCA1, CDH1, SMARCA4, KAT5, SOS1, ESR1, STK11, PIK3CD, CCND1, PARK2, CDKN1B, PCNA, CASP8, TGFBR1, EP300, PIK3CA, AKT1, HRAS, ETV6, FASLG, CDK4, RB1, PAX3, CREBBP, TSC1, BRAF, CTNNB1, TGFBR2

HIF-1 signaling pathway0.0002363264.9324

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {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, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

21

CREBBP, PIK3CD, IL6, PTPN11, IFNG, VHL, STAT3, CASP8, CDKN1B, EP300, ESR1, PIK3CA, MYC, TGFBR1, PIK3R2, TLR4, POLE, AKT1, ERBB2, HRAS, INSR

Type I diabetes mellitus3.78225e-065.915

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, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, BANNAYAN-RILEY-RUVALCABA 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, 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, {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}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

9

HLA-DQB1, IL6, IFNG, IL1B, FASLG, HLA-DQA1, FAS, PIK3CA, PTEN

NF-kappa B signaling pathway0.000166975.2328

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ATAXIA-TELANGIECTASIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 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, {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, ADRENAL CORTICAL CARCINOMA, AGAMMAGLOBULINEMIA, X-LINKED 1, 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}, 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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

19

ATM, GATA1, IL1B, CARD11, CCND1, BAX, MYD88, TP53, TLR4, PCNA, SMAD4, ERCC2, IL6, STAT3, TLR2, IFNG, BCL10, AKT1, BTK

Chemokine signaling pathway4.7986e-054.0943

ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, 46XY SEX REVERSAL 6, {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, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, PAPILLARY THYROID CARCINOMA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TUBEROUS SCLEROSIS 2, CHOROID PLEXUS PAPILLOMA, 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, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

31

NRAS, KRAS, EPHB2, TLR4, PIK3R2, GNAS, ATM, IL6, PPARG, ESR1, MAP3K1, CDKN1B, INSR, PIK3CD, CDH1, TP53, SOS1, CBL, CCND1, IFNG, MYC, TGFBR1, PIK3CA, AKT1, HRAS, IL1B, ERBB2, ITK, STAT3, BRAF, PTEN

Cytokine-cytokine receptor interaction5.40945e-103.4852

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, 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, IMMUNODEFICIENCY 21, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, PIEBALDISM, ?IMMUNODEFICIENCY 16, 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, 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, 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 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, 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, TUBEROUS SCLEROSIS 2, {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, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {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, 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}, {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

50

GATA1, FASLG, TNFRSF13B, ERBB2, PAX7, TP53, MYC, STX11, SMAD4, FAS, PIK3R2, MYD88, PIK3CA, BMPR1A, PDGFRB, HAX1, PPARG, CD27, PTPN11, CDH1, EDARADD, KAT5, ESR1, CBL, IL6, MET, RUNX1, CDKN1B, TNFRSF4, TLR4, BDNF, CASP8, TGFBR1, EP300, FOXO1, AKT1, HRAS, IL1B, CDK4, TGFBR2, IFNG, PTEN, PTPRJ, SERPINA1, CREBBP, STAT3, PDGFB, KIT, GATA2, ACVR1B

Replication and repair5.13166e-204.7448

ATAXIA-TELANGIECTASIA, GLIOMA SUSCEPTIBILITY 1, {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 P, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ANDROGEN INSENSITIVITY, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, 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, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ADRENAL CORTICAL CARCINOMA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, WERNER SYNDROME, FAMILIAL ADENOMATOUS POLYPOSIS 3, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE 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, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, LYNCH SYNDROME I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ADENOMAS, MULTIPLE COLORECTAL, 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}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

43

BRCA2, SLX4, MSH6, LIG4, MYC, MUTYH, GTF2H5, AR, WRN, ATM, ERCC3, MLH1, BLM, RBBP8, POLD1, ERCC4, UBE2T, BRCA1, POLE, MLH3, MSH2, TP53, BRIP1, RAD54B, PCNA, CHEK2, RAD54L, EP300, RAD51, NBN, CDK4, MCM4, XRCC3, ERCC2, PMS2, PTEN, XRCC4, ATR, ESR1, POLA1, NTHL1, PALB2, FANCD2

Infectious diseases: Parasitic3.10909e-153.0859

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 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}, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WERNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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}, 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, 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, {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, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

58

GATA1, FASLG, ERBB2, PPARG, CTNNB1, AURKA, RB1CC1, TLR4, FAS, PIK3R2, AKT1, MYD88, WRN, PTPN11, ATM, BAX, HAX1, VHL, INSR, MAP3K1, COL7A1, CD82, PIK3CD, CDH1, BTK, CDKN1B, KAT5, SOS1, CCND1, ESR1, CBL, FGFR1, MMP1, IL6, MET, IFNG, HLA-DQB1, CASP8, GNAS, PCNA, MYC, TGFBR1, EP300, PIK3CA, TP53, PTEN, HRAS, IL1B, CDK4, KRAS, RB1, STAT3, TGFBR2, HLA-DQA1, KIT, TLR2, PDGFRB, PDGFB

Apoptosis8.37184e-115.3829

MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, NOONAN SYNDROME 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, CARNEY COMPLEX, TYPE 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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, 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, PROTEUS SYNDROME, SOMATIC

24

AURKA, MYC, FAS, PIK3R2, MYD88, PTPN11, ATM, BCL10, PRKAR1A, PIK3CD, AKT1, CDKN1B, BAX, IFNG, FASLG, CASP8, PIK3CA, TP53, SOS1, IL1B, NTRK1, STAT3, ODC1, RB1

Circulatory system0.004269493.4640

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

34

NRAS, KRAS, MYC, PIK3R2, AKT1, FOXO1, PLA2G2A, ATM, FGFR1, ESR1, PRKAR1A, PTPN11, PIK3CD, DLC1, CTNNB1, KAT5, SOS1, IL6, TP53, GNAS, STX11, EP300, PIK3CA, CDH1, HRAS, DCC, IL1B, TNNT2, ERBB2, ADA, STAT3, BRAF, RB1, MT-CO1

Proteoglycans in cancer6.19789e-163.8558

IMMUNODEFICIENCY 14, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, LEPRECHAUNISM, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ADRENAL CORTICAL CARCINOMA, PAPILLARY THYROID CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, 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}, 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, 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, TUBEROUS SCLEROSIS 2, SCHOPF-SCHULZ-PASSARGE SYNDROME, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {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, {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

51

NRAS, ERBB2, SMARCA4, TP53, MYC, SMAD4, NME1, FAS, PIK3R2, FOXO1, PTPN11, INSR, RRAS2, CCND1, FGFR1, ESR1, COL7A1, CD82, PIK3CA, WNT10A, CDH1, CTNNB1, SOS1, CBL, BRCA1, PIK3CD, IL6, MET, IFNG, WT1, FASLG, TLR4, EPHB2, GPC3, EP300, GDNF, TWIST1, AKT1, HRAS, IL1B, CDK4, KRAS, PDGFRB, PAX3, CREBBP, STAT3, TGFBR2, BRAF, TLR2, PTEN, PDGFB

MicroRNAs in cancer1.72031e-124.355

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, 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, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PLEUROPULMONARY BLASTOMA, PANCREATIC CANCER/MELANOMA SYNDROME, PEUTZ-JEGHERS SYNDROME, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, 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, DESMOID DISEASE, HEREDITARY, 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, 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, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CHOROID PLEXUS PAPILLOMA, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, 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, {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

NRAS, ERBB2, SMARCA4, TP53, MYC, SMAD4, AR, PIK3R2, AKT1, FOXO1, ATM, PDGFRB, DICER1, CDKN2A, ESR1, BRCA1, CDH1, CTNNB1, SOS1, CCND1, STK11, BAX, MET, CDKN1B, PCNA, EP300, PIK3CA, APC, PTEN, HRAS, IL1B, CDK4, KRAS, NF1, FGFR3, CREBBP, STAT3, RB1, PDGFB

Pathways in cancer1.78697e-282.6595

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 21, 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, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, 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}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, DENYS-DRASH 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, 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, 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, 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, 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, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, 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, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, 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, MUIR-TORRE SYNDROME, 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}, 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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

93

TSC2, BRCA2, MSH6, FGFR4, FAS, GNAS, MYD88, MLH1, PPARG, PRKAR1A, CDH1, CDKN2A, WT1, IL1B, FH, MYC, PIK3CA, ERBB2, CREBBP, PDGFRB, KRAS, RUNX1, CASP8, AR, BAX, GDNF, GATA2, FGFR1, PIK3CD, PTCH2, CBL, CCND1, MET, IFNG, NKX2-1, TGFBR1, EP300, RAD51, MAX, RB1, BDNF, STAT3, BRAF, COL7A1, MEN1, CTNNB1, SUFU, SMAD4, ETV6, FOXO1, TJP2, VHL, BRCA1, AKT1, SMARCA4, KAT5, AXIN2, TP53, CDK4, CDKN1C, PTEN, FGFR3, PAX3, AXIN1, KIT, TLR2, NRAS, AURKA, EPHB2, TLR4, PIK3R2, NTRK1, PTPN11, ATM, MAP3K1, INSR, WNT10A, SOS1, MSH2, FGFR2, IL6, CDKN1B, PCNA, RET, APC, HRAS, DCC, FASLG, NHP2, ESR1, TGFBR2, MMP1, PDGFB

Viral carcinogenesis1.36162e-103.855

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, 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, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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}, 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, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, 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, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, 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, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

43

NRAS, SMARCA4, TP53, MAD1L1, MYC, SMAD4, AR, FAS, PIK3R2, KRAS, PIK3CA, ATM, SMARCB1, CDKN2A, BUB1B, ESR1, PIK3CD, AKT1, CTNNB1, SOS1, CCND1, BRCA1, BAX, MET, CDKN1B, PHB, PCNA, CASP8, MEN1, EP300, CD27, PTEN, HRAS, IL1B, CDK4, ERCC2, IFNG, RB1, TLR4, CREBBP, STAT3, HFE, ERBB2

Transcriptional misregulation in cancer8.24515e-163.6464

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, EMBERGER SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY 21, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, ANDROGEN INSENSITIVITY, ATAXIA-TELANGIECTASIA, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, {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}, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, 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, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, 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}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

54

GATA1, RET, PAX7, PPARG, SMARCA4, TP53, MYC, SMAD4, AR, ETV6, AKT1, NTRK1, ATM, ERCC3, PDGFRB, MXI1, GATA2, VHL, ESR1, NSD1, ERBB2, IL6, BRCA1, CDH1, BTK, CTNNB1, KAT5, CCND1, TRIM28, ASCL1, BAX, MET, RUNX1, CDKN1B, WT1, TLR4, PCNA, MMP1, MEN1, EP300, FOXO1, PTEN, SMARCB1, MAX, IL1B, CDK4, IFNG, NF1, PAX3, CREBBP, CDKN2A, STAT3, TGFBR2, RB1

T cell receptor signaling pathway1.0133e-095.0137

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, LEPRECHAUNISM, ANDROGEN INSENSITIVITY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY 14, 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, NOONAN SYNDROME 4, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, {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, PROTEUS SYNDROME, SOMATIC

28

NRAS, KRAS, RUNX1, CASP8, TLR4, AR, PIK3R2, BCL10, PTPN11, CARD11, PPARG, ESR1, INSR, PIK3CD, AKT1, CTNNB1, CBL, CCND1, IFNG, PIK3CA, SOS1, HRAS, FASLG, CDK4, RB1, ITK, CREBBP, STAT3

B cell receptor signaling pathway0.0001832595.6927

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY 14, 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, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, 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, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

16

NRAS, CARD11, CCND1, KRAS, PPARG, CREBBP, STAT3, HRAS, PIK3CD, PIK3R2, KIT, SOS1, AKT1, BCL10, PIK3CA, BTK

Fc epsilon RI signaling pathway0.0001492485.926

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, 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, ADRENAL CORTICAL CARCINOMA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

15

NRAS, KRAS, IL6, IFNG, PPARG, STAT3, ETV6, BTK, PIK3CD, PIK3R2, PIK3CA, AKT1, TP53, HRAS, SOS1

TNF signaling pathway0.0002787854.832

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ANDROGEN INSENSITIVITY, 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, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ALAGILLE SYNDROME, ADRENAL CORTICAL CARCINOMA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 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, 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, {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, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

22

CTNNB1, TP53, MYC, AR, FAS, PIK3R2, PTPN11, PIK3CD, AKT1, CDKN1B, IL6, IFNG, IL1B, CASP8, PIK3CA, TLR2, FASLG, JAG1, RB1, CREBBP, MMP1, PTEN

Fanconi anemia pathway7.04256e-106.4521

{BREAST-OVARIAN CANCER, FAMILIAL, 2}, FANCONI ANEMIA, COMPLEMENTATION GROUP P, MUIR-TORRE SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, 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}, ?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}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {GLIOBLASTOMA 3}, FANCONI ANEMIA, COMPLEMENTATION GROUP T, LYNCH SYNDROME I, MISMATCH REPAIR CANCER SYNDROME

18

CHEK2, MSH6, BRCA2, BRCA1, MLH1, PMS2, UBE2T, PALB2, BRIP1, FANCD2, ATR, PCNA, BLM, SLX4, RAD51, POLD1, ERCC4, MSH2

Type II diabetes mellitus0.0005924516.1519

BURKITT LYMPHOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, LEPRECHAUNISM, {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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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}

13

TP53, PCNA, MYC, EP300, ESR1, PIK3CD, FOXO1, PIK3CA, AKT1, BCL10, TLR2, PIK3R2, INSR

Non-alcoholic fatty liver disease (NAFLD)2.56315e-104.5346

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PEUTZ-JEGHERS 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, {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, PARAGANGLIOMAS 5, TUBEROUS SCLEROSIS-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, ADRENAL CORTICAL CARCINOMA, 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, 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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PARAGANGLIOMAS 4, CARCINOID TUMORS, INTESTINAL, {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, 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}, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

33

SDHD, CTNNB1, MYC, SDHC, AR, FAS, PIK3R2, PIK3CA, PTPN11, CCND1, PPARG, TSC1, SDHA, SDHB, INSR, PIK3CD, AKT1, STK11, BAX, TP53, IL1B, PCNA, CASP8, IL6, FOXO1, PTEN, HRAS, FASLG, TGFBR2, ESR1, STAT3, RB1, MT-CO1

Rap1 signaling pathway3.99168e-113.6361

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, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {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}, 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, IMMUNODEFICIENCY 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, PAPILLARY THYROID CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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}, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ADRENAL CORTICAL CARCINOMA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, NEUROCUTANEOUS MELANOSIS, SOMATIC, {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, 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

NRAS, RET, CTNNB1, AURKA, CBL, MYC, SMAD4, PTEN, NME1, FAS, PIK3R2, GNAS, PTPN11, CCND1, FGFR1, INSR, CD82, PIK3CA, PIK3CD, CDH1, KRAS, AXIN1, ESR1, FGFR2, BRAF, IL6, MET, RUNX1, TP53, BDNF, EPHB2, TGFBR1, FGFR4, AKT1, HRAS, DCC, JAG1, ADA, PDGFRB, FGFR3, POT1, STAT3, TINF2, KIT, BAP1, ERBB2, PDGFB

Melanogenesis0.0001209744.9934

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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PIEBALDISM, {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, 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, 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, NEUROCUTANEOUS MELANOSIS, 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, {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}, SCHOPF-SCHULZ-PASSARGE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

18

NRAS, CREBBP, KRAS, CCND1, GDNF, CTNNB1, PAX3, MYC, EP300, ESR1, CDH1, SMAD4, WNT10A, KIT, GNAS, AKT1, PTEN, HRAS

Transport and catabolism8.47622e-082.1672

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, GLIOMA SUSCEPTIBILITY 1, {BUDD-CHIARI SYNDROME}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ICHTHYOSIS, X-LINKED, LEPRECHAUNISM, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, 46XY SEX REVERSAL 6, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, MISMATCH REPAIR CANCER SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PIEBALDISM, GAUCHER DISEASE, TYPE I, RUBINSTEIN-TAYBI 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, ALAGILLE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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, PEUTZ-JEGHERS SYNDROME, 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, 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, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, {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}, {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}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

74

BARD1, ERBB2, SFTPA2, TSG101, AURKA, FGFR2, RB1CC1, EP300, POT1, NME1, NF2, PIK3R2, AKT1, IGF2R, GNAS, BMPR1A, INSR, ATM, IDH2, KRAS, PTPN11, NTRK1, HAX1, PPARG, STAT3, MAP3K1, MET, CD82, PIK3CA, IDH1, CASP8, CDH1, MMP1, CTNNB1, BTK, TLR4, FGFR4, ESR1, CBL, STK11, HLA-DQA1, IL6, GBA, IFNG, HLA-DQB1, PMS2, STX11, SFTPA1, TGFBR1, RET, FOXO1, TP53, TLR2, HRAS, IL1B, CDK4, HIP1, JAG1, MYC, CHEK2, PDGFRB, FGFR3, SMAD4, CREBBP, STS, MSR1, MYD88, TGFBR2, TINF2, F5, KIT, HFE, CORO1A, PDGFB

Non-small cell lung cancer1.50655e-125.8836

RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, 46XY SEX REVERSAL 6, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, PAPILLARY THYROID CARCINOMA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

23

NRAS, KRAS, MYC, PIK3R2, CDKN2A, PPARG, STAT3, MAP3K1, PIK3CD, CDK4, CTNNB1, SOS1, CCND1, TP53, PCNA, PIK3CA, AKT1, HRAS, ERBB2, CREBBP, ESR1, BRAF, RB1

Prolactin signaling pathway2.94063e-055.5430

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, 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, {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, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ADRENAL CORTICAL CARCINOMA, 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, GLIOBLASTOMA, SOMATIC,; {GLIOMA, SUSCEPTIBILITY TO, SOMATIC},; {GLIOMA SUSCEPTIBILITY 1}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, THROMBOCYTOPENIA 5, 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, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA

18

PIK3R2, NRAS, KRAS, IL6, CCND1, ERBB2, CTNNB1, ESR1, PIK3CA, PIK3CD, INSR, STAT3, SOS1, AKT1, BCL10, TP53, HRAS, ETV6