ENDOCRINE FEATURES

TermP valueIC# diseasesdiseases# genesgenes
Intestinal immune network for IgA production0.02595485.96

TUBEROUS SCLEROSIS 2, PREMATURE OVARIAN FAILURE 7, CAMURATI-ENGELMANN DISEASE, 46XY SEX REVERSAL 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

6

HLA-DQB1, IL6, IFNG, HLA-DQA1, NR5A1, TGFB1

Oxytocin signaling pathway0.0004597474.2435

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, PEUTZ-JEGHERS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

29

PLIN1, NRAS, KRAS, PDE4D, PRKACA, GNAS, ATM, IL6, CASR, CACNA1D, KCNJ5, CACNA1C, FOXP3, SLC2A4, PRKAR1A, BTK, FSHR, STK11, CCND1, TP53, CACNA1S, MEF2A, HRAS, BMP4, IRS1, ITPR3, STAT3, GNAI2, PIK3R1

Adipocytokine signaling pathway0.0001420225.5417

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ESTROGEN RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PEUTZ-JEGHERS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPROINSULINEMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

20

RETN, IRS2, STK11, IL6, CCND1, APPL1, TP53, PPARG, LEP, PRKACA, AKT2, TSC1, ESR1, G6PC3, SLC2A4, INS, STAT3, MAPK8IP1, IRS1, PTPN11

Thyroid hormone signaling pathway3.75647e-064.8532

MULLERIAN APLASIA AND HYPERANDROGENISM, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, TUBEROUS SCLEROSIS 2, THYROID HORMONE RESISTANCE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, RENAL CYSTS AND DIABETES SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME

29

NRAS, APPL1, KRAS, TSC2, HNF1B, NKX2-5, AR, ATM, THRA, IL6, PPARG, ESR1, PRKACA, BRCA1, AKT2, CCND1, TP53, STAT1, GATA4, NKX2-1, GLI3, HRAS, BMP4, WNT4, NR3C1, STAT3, THRB, PTEN, PIK3R1

Herpes simplex infection0.003815823.831

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?SPERMATOGENIC FAILURE 13, ATAXIA-TELANGIECTASIA, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

30

CAV1, VHL, KRAS, TP53, STUB1, OAS1, TGFB1, PTPN11, ATM, STAT1, IL6, EIF2AK3, PPARG, STAT3, HMGA1, LEP, GJA1, TAF4B, ESR1, B2M, CCND1, PTH, IFNG, HLA-DQB1, CASR, PTPN1, NONO, TP63, HLA-DQA1, INS

Epstein-Barr virus infection0.008952613.6929

SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}

30

PLIN1, GATA1, POLR3A, TP53, AR, TBX19, ENTPD1, STAT1, IL6, EIF2AK3, NFKB2, PPARG, ESR1, PRKACA, AKT2, CDKN1B, BTK, B2M, HLA-DQA1, CCND1, IFNG, GLUD1, HRAS, HLA-DQB1, POLR3B, NR3C1, STAT3, LYZ, PTEN, PIK3R1

Influenza A3.17292e-053.8535

HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

34

GATA1, PPARG, GJA1, APOA1, OAS1, AR, TGFB1, PTPN11, NEUROD1, STAT1, ERCC3, IL6, EIF2AK3, FGFR1, ESR1, CDKN1B, PRKAR1A, AKT2, IFNG, BLM, B2M, CCND1, STAR, TP53, HRAS, HLA-DQB1, DNAJC3, PTPN1, IRS1, STAT3, BTK, HLA-DQA1, INS, PIK3R1

HTLV-I infection7.22668e-113.2274

MULLERIAN APLASIA AND HYPERANDROGENISM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, PALLISTER-HALL SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CULLER-JONES SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, SERKAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

59

GATA1, NRAS, CAV1, FGFR1, KRAS, IL2RA, WNT7A, GATA4, WRN, TGFB1, WNT3, PTPN11, INSR, ATM, GATA6, CCND1, CASR, TCF7L2, PITX2, STAT1, PPARG, OTX2, PRKACA, LEP, FOXP3, BMP4, BRCA1, BMP2, TP53, PAX8, B2M, LYZ, IL6, IFNG, THRA, AKT2, HLA-DQB1, NKX2-1, MEN1, HLA-DQA1, GLI3, POLD1, PTEN, HRAS, GDNF, IRS2, GNAS, WNT4, ESR1, GLI2, NR3C1, TP63, SHH, GNAI2, INS, STAT3, LRP6, NFKB2, PIK3R1

Measles0.006155824.522

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENTAL RETARDATION, X-LINKED 102, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, WOLCOTT-RALLISON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

26

DDX3X, GJA1, IL2RA, OAS1, TGFB1, PTPN11, STAT1, IL6, EIF2AK3, ESR1, BRCA1, TP53, BTK, B2M, AKT2, CCND1, APOA1, CDKN1B, HRAS, PTPN1, IFNG, IRS1, NR3C1, STAT3, LYZ, PIK3R1

Vascular smooth muscle contraction0.0270524.6330

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, LIPOID ADRENAL HYPERPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

21

ATM, CACNA1S, SOX9, PLIN1, CASR, IL6, PTH, GNA11, TP53, ITPR3, FSHR, PRKACA, CACNA1C, STAT3, STAR, PRKAR1A, PIK3R1, GNAI2, GNAS, CACNA1D, HRAS

GnRH signaling pathway1.01862e-085.1236

HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, TIMOTHY SYNDROME, HYPERPROINSULINEMIA, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, CAMURATI-ENGELMANN DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

27

NRAS, KRAS, LHB, FSHB, GNAS, TGFB1, ATM, CASR, CACNA1D, GNA11, PRKACA, CACNA1C, BMP2, IFNG, FSHR, LHCGR, TP53, CACNA1S, MEF2A, HRAS, GNRHR, GNRH1, ITPR3, NR3C1, GNAI2, INS, PIK3R1

Ovarian steroidogenesis7.61649e-135.7241

PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CAMURATI-ENGELMANN DISEASE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, 46XY SEX REVERSAL 3, LIPOID ADRENAL HYPERPLASIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

27

FSHB, LHB, GNAS, TGFB1, NR5A1, TCF7L2, GATA4, PPARG, STAT3, PRKACA, INSR, FOXP3, MSMO1, BMP2, STAR, FSHR, LHCGR, IL6, LIPE, INS, HSD3B2, TSHR, POR, GNRH1, NR3C1, ESR1, CYP17A1

Insulin signaling pathway0.002332894.3431

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MODY, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, PEUTZ-JEGHERS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, SHORT SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

29

PLIN1, TSC2, KRAS, NRAS, INSR, LEP, GCK, FGFR1, STAT3, PRKACA, PPP1R3A, PRKAR1A, BRCA1, LIPE, G6PC3, STK11, AKT2, TP53, MAPK8IP1, HRAS, IRS2, PTPN1, IRS1, TSC1, ESR1, DUSP6, SLC2A4, INS, PIK3R1

Ras signaling pathway0.005262283.6753

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, GLYCOGEN STORAGE DISEASE XII, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

40

NRAS, RET, ALDOA, SHH, KRAS, CNBP, GNAS, TBX19, PTPN11, INSR, IL6, TGFB1, SPRY4, OTX2, PRKACA, LEP, AKT2, BMP2, GJA1, ESR1, FSHR, FGFR1, LHX3, CCND1, PTH, TP53, MEN1, GLUD1, HRAS, FGF17, GNRH1, IRS1, NR3C1, STAT3, DUSP6, PAX8, GNAI2, INS, PTEN, PIK3R1

Hippo signaling pathway4.57951e-054.0640

MULLERIAN APLASIA AND HYPERANDROGENISM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CULLER-JONES SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRASIER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, FUHRMANN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, SERKAL SYNDROME, PALLISTER-HALL SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, TUBEROUS SCLEROSIS-1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

33

SOX9, VHL, SOX2, WNT7A, OTX2, NR3C1, WNT3, TGFB1, TCF7L2, GATA4, PITX2, FGFR1, TSC1, BMP2, BRCA1, ESR1, FSHR, CCND1, TP53, KIF1B, WT1, GLI3, PTEN, BMP4, WNT4, GNRH1, GLI2, BMPR1B, TP63, INS, STAT3, IRS1, SHH

Prolactin signaling pathway2.62375e-115.5432

PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, MODY, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, SHORT SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, ?HYPERPROLACTINEMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

29

NRAS, KRAS, LHB, NR5A1, IGF2, STAT1, CCND1, LEP, GCK, PRLR, INSR, AKT2, SLC2A2, ESR1, LHCGR, IL6, PTH, TP53, GATA4, INS, HRAS, POR, TSHR, GNRH1, IRS1, NR3C1, STAT3, CYP17A1, PIK3R1

Progesterone-mediated oocyte maturation0.00351635.2432

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, 3-M SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

20

KRAS, AKT2, GNAI2, PRKACA, FMR1, PIK3R1, CDKN1B, PPARG, INSR, NR3C1, CUL7, ESR1, FOXP3, TCF7L2, BRCA1, INS, PRKAR1A, GNAS, TP53, HRAS

MAPK signaling pathway8.08548e-063.4553

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HARTSFIELD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LIPOID ADRENAL HYPERPLASIA, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, RABSON-MENDENHALL SYNDROME, MALOUF SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, CAV1, PPARG, SOX2, NFKB2, TP53, LMNA, EIF2B1, TGFB1, MEF2A, INSR, ATM, STAT1, KRAS, IL6, CACNA1D, SPRY4, STAT3, PRKACA, CACNA1C, LEP, AKT2, BMP2, STAR, ESR1, GJA1, BRCA1, FGF17, CCND1, PTH, FGFR1, CDKN1B, ICK, CACNA1S, MAPK8IP1, PTEN, HRAS, MAX, NRAS, PTPN1, GNRH1, IRS1, NR3C1, TP63, DUSP6, SHH, INS, PITX2, PIK3R1

Thyroid hormone synthesis4.95094e-095.3536

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PENDRED SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRASIER SYNDROME, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 4, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, THYROID DYSHORMONOGENESIS 5, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, THYROID DYSHORMONOGENESIS 3, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, THYROID DYSHORMONOGENESIS 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

26

SLC5A5, SLC26A4, GNAS, ATM, PPARG, TG, PRKACA, LEP, DUOX2, BMP2, IL6, WT1, NKX2-1, TRH, HNF1B, DUOXA2, IYD, HRAS, TSHB, TSHR, ITPR3, POU1F1, TPO, GNAI2, INS, PAX8

Graft-versus-host disease0.0002256986.286

SHORT SYNDROME, TUBEROUS SCLEROSIS 2, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

7

HLA-DQB1, IL6, IFNG, B2M, PIK3R1, HLA-DQA1, PTPN11

AMPK signaling pathway2.08207e-054.8334

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MODY, TYPE I, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HARTSFIELD SYNDROME, MODY, TYPE II, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, SHORT SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

28

TSC2, APPL1, PRKACA, PPARG, LEP, GCK, FGFR1, TSC1, HNF4A, INSR, SLC2A4, LIPE, G6PC3, STK11, AKT2, CCND1, TP53, STRADA, PTEN, HRAS, IRS2, PEX5, NR3C1, ESR1, INS, STAT3, IRS1, PIK3R1

PI3K-Akt signaling pathway1.49073e-052.9274

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, KOWARSKI SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HARTSFIELD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FUHRMANN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PREMATURE OVARIAN FAILURE 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, PEUTZ-JEGHERS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?HYPERPROLACTINEMIA, AXENFELD-RIEGER SYNDROME, TYPE 1, LARON DWARFISM, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, ESTROGEN RESISTANCE, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

64

TSC2, PPARG, SOX2, IL2RA, SOX9, RETN, OTX2, NR3C1, BRCA1, IGF2, TGFB1, NR5A1, GHR, INSR, STAT1, CCND1, CASR, LEP, GCGR, GJA1, VHL, TSC1, BLK, HMGA1, BMP2, PTPN11, AKT2, WNT7A, KISS1R, PITX2, KRAS, G6PC3, FGA, ESR1, FGFR1, STK11, FGF17, IL6, PTH, CDKN1B, IRS2, NRAS, PRLR, GNAS, PROK2, SHOC2, TP53, PTEN, HRAS, ITCH, PTPN1, GNRH1, IRS1, GH1, HAMP, BTK, TP63, DUSP6, SHH, GNAI2, INS, STAT3, TNXB, PIK3R1

Human Diseases8.71199e-070.39227

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, PERRAULT SYNDROME 4, KOWARSKI SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, LEPRECHAUNISM, HYPERPROINSULINEMIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, VELOCARDIOFACIAL SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HOLOPROSENCEPHALY-2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CORTISONE REDUCTASE DEFICIENCY 2, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, DIGEORGE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, PRADER-WILLI SYNDROME, IMAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, PLEUROPULMONARY BLASTOMA, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

227

GATA1, TSC2, USP8, CAV1, APPL1, IGSF1, DYRK1B, KISS1, CNBP, SOX3, GP1BA, GNA11, GNAS, TBX19, MAPK8IP1, AP2S1, KCNJ11, TBX3, NBN, PPARG, PDE11A, MARS, OTX2, PRKAR1A, AKR1C2, RECQL4, GJA1, TAF4B, FGA, B2M, KISS1R, LHCGR, AKT2, LIPE, TG, WT1, SIX3, BCOR, FANCA, PNPLA2, PROK2, HSD17B4, SDHB, MT-CO3, TCF7L2, NEUROG3, PTPN1, BMP4, CDC73, POR, TNXB, SALL1, NRAS, HSD11B1, CYC1, GHSR, GATA3, GNAI2, THRB, NONO, ARNT2, PTCH1, WNT7A, CHD7, GH1, SOX2, NFKB2, HTR1A, SLC26A4, NKX2-5, PAX4, AR, IGF2, RNF216, THRA, ERCC3, FSHB, CACNA1D, FGFR1, POU1F1, MT-ND6, HMGA1, PTH, LEP, LMNA, LHX3, CDKN1B, CYP27B1, FSHR, HLA-DQA1, CCND1, CEL, NR0B1, ACP5, GPD2, AIP, NKX2-1, WNT3, MEN1, GLUD1, GDNF, GLI3, MAX, TSHR, ESR1, LIPC, TP63, ERCC8, DUSP6, SEC23B, INS, ABCC8, LRP6, GCK, PAX8, PLIN1, PPP1R15B, DDX3X, SHH, SLC2A2, IL2RA, SOX9, HNF1B, OAS1, SETD2, KCNJ5, SDHD, ARX, NEUROD1, STAT1, CASR, CTDP1, ITPR3, PITX2, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, BRCA1, NDN, KRAS, PCSK1, NDUFS1, SRD5A2, HDAC8, TP53, IRS2, MT-ND1, LHX4, IFNG, POLD1, EIF2B2, FGF17, CDKN1C, HNF1A, TSHB, GLI2, XRCC4, HAMP, LARS2, APOA1, BTK, LYZ, STAT3, ITCH, AIRE, VDR, SERPINC1, IRS1, EIF2B1, POLR3A, LHB, STUB1, RETN, BMPR1B, MT-ND4, STK11, NR5A1, TGFB1, WRN, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, NSD1, SPRY4, TSC1, PRKACA, CACNA1C, INSR, PTPN11, SLC2A4, PCNT, FMR1, BLM, ALDOA, TBX1, IL6, STAR, GATA4, CACNA1S, MT-ND5, TRH, RET, MEF2A, CTLA4, PTEN, HRAS, HLA-DQB1, WNT4, DNAJC3, GNRH1, POLR3B, STX16, NDUFB11, NR3C1, TPO, PRLR, PDX1, PDE4D, HFE, PEX5, PIK3R1, DICER1

Organismal Systems0.0003691120.34226

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, GLYCOGEN STORAGE DISEASE IC, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, CULLER-JONES SYNDROME, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, HEMOCHROMATOSIS, TYPE 4, HYPERPROINSULINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SHORT SYNDROME, [PHENYLTHIOCARBAMIDE TASTING], DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PITT-HOPKINS-LIKE SYNDROME 2, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, TENORIO SYNDROME, SERKAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, PENDRED SYNDROME, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, PRADER-WILLI SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMAGE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLYCEROL KINASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, THYROID DYSHORMONOGENESIS 4, LEPRECHAUNISM, PLEUROPULMONARY BLASTOMA, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 3, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OVARIAN DYSGENESIS 1, ?46XY SEX REVERSAL 5, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE

221

GATA1, DYRK1B, USP8, CAV1, APPL1, IRX5, PDE4D, KISS1, CNBP, MTNR1B, SEMA3E, TBX19, GLI3, FXN, NRXN1, KCNJ11, TBX3, PPARG, OTX2, PRKAR1A, EIF2B2, GJA1, G6PC3, FGA, B2M, STK11, AKT2, FMR1, TG, WT1, ITCH, FANCA, NDUFB11, PROK2, MT-CO3, NBN, PTPN1, BMP4, POR, IRS1, SALL1, EIF2B4, CYC1, SLC5A5, GATA3, SLC37A4, GNAI2, CUL7, NONO, WNT7A, GP1BA, ITPR3, SOX2, NFKB2, HTR1A, GLI2, SCNN1G, NKX2-5, AR, FSHR, IGF2, GNAS, RNF216, THRA, ERCC3, KCNJ1, GNRHR, FSHB, CACNA1D, FGFR1, POU1F1, BLK, AVP, HMGA1, PTH, LEP, LMNA, LHX3, MSMO1, CDKN1B, ESR1, GK, HLA-DQA1, CCND1, CEL, NR0B1, AP2S1, ICK, NRAS, NKX2-1, GLIS3, MEN1, IL6, GLUD1, GDNF, THRB, CASR, TSHR, IFNG, LIPC, TP63, ERCC8, DUSP6, SEC23B, INS, LRP6, GCK, PAX8, WNT3, PLIN1, TTR, RET, DDX3X, GNA11, SLC2A2, IL2RA, SHOC2, HNF1B, SETD2, KCNJ5, SDHD, SCNN1B, NEUROD1, STAT1, KRAS, SLC19A2, CTDP1, PITX2, SOX9, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, HSD3B2, BRCA1, NDN, SEMA3A, VDR, TSC2, WRN, APOA1, TP53, IRS2, USP9X, SLC26A4, MAPK8IP1, KISS1R, BSND, CDKN1C, HNF1A, TSHB, PTEN, XRCC4, HAMP, ACP5, BTK, LYZ, STAT3, AGPAT2, AIP, SERPINC1, SLC40A1, POLR3A, LHB, NDUFS1, STUB1, RETN, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, SLC39A4, PTPN11, ATM, GATA6, EIF2AK3, GCGR, DICER1, SPRY4, TSC1, PRKACA, CACNA1C, INSR, FOXL2, DUOX2, TCF7L2, SLC2A4, RNF125, PCNT, LIPE, TAS2R38, ALDOA, CBX2, STAR, GATA4, CACNA1S, CLCNKB, TRH, DUOXA2, IYD, MEF2A, CTLA4, ABCC8, HRAS, HLA-DQB1, WNT4, DNAJC3, GNRH1, PDX1, POLR3B, STX16, NR3C1, TPO, PRLR, SHH, CYP17A1, HFE, PEX5, PIK3R1

Cellular Processes1.57332e-060.93188

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, PREMATURE OVARIAN FAILURE 5, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, KENNY-CAFFEY SYNDROME, TYPE 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 3-M SYNDROME 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, MULLERIAN APLASIA AND HYPERANDROGENISM, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PREMATURE OVARIAN FAILURE 8, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, IMAGE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERRAULT SYNDROME 5, CHILD SYNDROME, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

169

GATA1, DYRK1B, USP8, CAV1, AMACR, TSC2, KISS1, CNBP, PRKACA, GNAS, GLI3, AP2S1, ALDOA, TBX3, PPARG, OTX2, PRKAR1A, NSDHL, BTK, FGA, B2M, STK11, AKT2, FMR1, WT1, SIX3, PNPLA2, PROK2, SHOC2, ABCD1, BMP4, CDC73, POR, TNXB, SALL1, NRAS, CYC1, GATA3, GNAI2, THRB, PEX5, PTCH1, WNT7A, HSD17B4, KRAS, APOA1, GLI2, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, IL6, FGFR1, SOX3, HMGA1, PTH, LEP, LMNA, LHX3, STAR, FSHR, HLA-DQA1, CCND1, CEL, IFNG, ACP5, ICK, NKX2-1, WNT3, MEN1, GLUD1, GDNF, CUL7, STEAP3, MAX, PTPN1, TP63, DUSP6, INS, LRP6, NOBOX, NFKB2, PAX8, PLIN1, KCNJ11, GNA11, GJA1, APPL1, IL2RA, HESX1, CUL4B, CTNS, GHR, STAT1, CASR, PITX2, SOX9, VHL, USP9X, BMP2, FOXP3, BRCA1, NDN, SOX2, VDR, HTR1A, TP53, IRS2, MAPK8IP1, POLD1, KISS1R, MCM4, FGF17, CDKN1C, HNF1A, TSHR, SIL1, PTEN, ITPR3, LYZ, STAT3, AGPAT2, PEX1, STAG3, IRS1, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, IGF2, PTPN11, ATM, GATA6, GCGR, NSD1, SPRY4, TSC1, TBCE, CACNA1C, INSR, SLC2A4, PCNT, BLM, ITCH, CBX2, CDKN1B, GATA4, FSHB, RET, MEF2A, CTLA4, PDE4D, HRAS, HLA-DQB1, WNT4, DNAJC3, GNRH1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, HFE, DICER1, SHH

Environmental Information Processing3.26393e-070.63203

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, COCKAYNE SYNDROME, TYPE A, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SHORT SYNDROME, FUHRMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SERKAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

194

GATA1, DYRK1B, CAV1, APPL1, IRX5, PDE4D, KISS1, CNBP, MTNR1B, GNA11, GNAS, TBX19, GLI3, NRXN1, CYP11B2, KCNJ11, TBX3, PPARG, CDKN1B, OTX2, PRKAR1A, EIF2B2, G6PC3, FGA, B2M, KISS1R, STK11, AKT2, FMR1, KIF1B, WT1, ITCH, BCOR, FANCA, NDUFB11, PROK2, WNT4, HSD17B4, NBN, ABCD1, BMP4, CDC73, TNXB, SALL1, EIF2B4, GHSR, GATA3, GNAI2, GAS1, HTR1A, THRB, GLI2, ARNT2, PTCH1, WNT7A, GP1BA, GH1, SOX2, NFKB2, APOA1, SCNN1G, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, ERCC3, GNRHR, FSHB, CACNA1D, FGFR1, POU1F1, BLK, HMGA1, LEP, LMNA, LHX3, STAR, ESR1, FSHR, HLA-DQA1, CCND1, PTH, NR0B1, AP2S1, ICK, NRAS, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, PTPN1, IFNG, TP63, DUSP6, INS, LRP6, GCK, PAX8, PLIN1, TTR, DDX3X, SHH, GJA1, IL2RA, SHOC2, HNF1B, USP9X, GHR, NEUROD1, TSHB, STAT1, KRAS, CASR, PITX2, SOX9, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, BRCA1, NDN, SEMA3A, VDR, TSC2, WRN, RAB23, TP53, NONO, IRS2, FOXL2, MAPK8IP1, POLD1, ERCC8, FGF17, CDKN1C, HNF1A, TSHR, PTEN, ITPR3, PAX4, BTK, LYZ, STAT3, AIP, SERPINC1, IRS1, POLR3A, LHB, RETN, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, WNT3, PTPN11, ATM, GATA6, TACR3, GCGR, SPRY4, TSC1, PRKACA, CACNA1C, INSR, SLC2A4, LIPE, ALDOA, IL6, MARS, GATA4, CACNA1S, STRADA, TRH, RET, MEF2A, CTLA4, ABCC8, HRAS, HLA-DQB1, EIF2AK3, GNRH1, POLR3B, NR3C1, PRLR, HFE2, HFE, PEX5, PIK3R1

Central carbon metabolism in cancer0.0001099996.021

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, SHORT SYNDROME, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, ADRENAL CORTICAL CARCINOMA, BANNAYAN-RILEY-RUVALCABA SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

17

PTPN1, NRAS, KRAS, EIF2B1, CCND1, TP53, GCK, FGFR1, STAT3, AKT2, LEP, PTEN, HRAS, RET, INS, SLC2A2, PIK3R1

Neuroactive ligand-receptor interaction2.06711e-063.6961

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, KOWARSKI SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CAMURATI-ENGELMANN DISEASE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?HYPERPROLACTINEMIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LARON DWARFISM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IA, HYPERTHYROIDISM, NONAUTOIMMUNE, THYROID HORMONE RESISTANCE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

46

FSHB, MTNR1B, LHB, RETN, EIF2B1, IGF2, TGFB1, NR5A1, GHR, THRA, IL6, GNRHR, PPARG, STAT3, PRKACA, LEP, CASR, FOXP3, PTPN11, KISS1R, TP53, ESR1, FSHR, LHCGR, CCND1, HTR1A, FMR1, POU1F1, GNAS, TRH, GHSR, TACR3, HRAS, TSHB, TSHR, GNRH1, IRS1, GH1, NR3C1, PRLR, GCGR, GNAI2, INS, THRB, PTEN, PIK3R1

Signaling pathways regulating pluripotency of stem cells2.20965e-084.3245

MULLERIAN APLASIA AND HYPERANDROGENISM, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FUHRMANN SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, SERKAL SYNDROME, PALLISTER-HALL SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

40

HESX1, CAV1, SOX2, FSHB, NKX2-5, BMPR1B, WNT3, GDNF, TCF7L2, GATA4, TBX3, PITX2, FGFR1, BMP2, OTX2, BRCA1, NR3C1, KRAS, VDR, ESR1, LHX3, CCND1, TP53, WT1, AKT2, MEN1, GLI3, LRP6, HRAS, BMP4, HNF1A, WNT4, NRAS, STAT3, GATA3, PIK3R1, WNT7A, THRB, PTEN, SHH

cGMP-PKG signaling pathway3.48675e-064.1451

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

38

SOX9, KCNJ11, GNA11, GJA1, HTR1A, PDE4D, HNF1B, AR, GNAS, TGFB1, PTPN11, INSR, ATM, GATA4, CASR, CACNA1D, PPARG, ESR1, PRKACA, CACNA1C, PPP1R3A, FOXP3, TCF7L2, AKT2, PRKAR1A, IL6, PTH, TP53, CACNA1S, MEF2A, IRS2, IRS1, ITPR3, STAT3, GNAI2, INS, ABCC8, PIK3R1

Calcium signaling pathway0.00213414.1443

HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, TIMOTHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL

30

PDE4D, EIF2B1, GNA11, APOA1, AR, GNAS, TGFB1, ATM, IL6, CASR, CACNA1D, PPARG, PRKACA, CACNA1C, PRKAR1A, VDR, B2M, LHCGR, CCND1, CACNA1S, TRH, HRAS, BMP4, CDC73, TACR3, PTPN1, ITPR3, GNAI2, INS, PIK3R1

Cellular community0.000450842.297

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MULLERIAN APLASIA AND HYPERANDROGENISM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PANHYPOPITUITARISM, X-LINKED, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, HYPERPARATHYROIDISM, NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

81

PLIN1, HESX1, MEF2A, MEN1, CAV1, SHH, VHL, SOX2, HTR1A, SOX9, CNBP, PTEN, BMPR1B, AR, GNA11, FSHR, IGF2, KRAS, TGFB1, WNT3, PTPN11, INSR, ATM, GATA6, ERCC3, KCNJ11, TBX3, GDNF, GJA1, FGFR1, BMP2, SOX3, CACNA1C, OTX2, TCF7L2, LHX3, WNT7A, KISS1R, PITX2, TP53, BTK, VDR, ESR1, GLI2, BRCA1, LYZ, IL6, PTH, STAR, WT1, GATA4, AKT2, NRAS, GNAS, FSHB, WNT4, RET, GLI3, LRP6, HRAS, MAX, BMP4, NKX2-5, HNF1A, CASR, PTPN1, PRKACA, GNRH1, IRS1, ITPR3, SALL1, NR3C1, CCND1, STAT3, GATA3, GCGR, GNAI2, INS, THRB, TNXB, PIK3R1

cAMP signaling pathway2.47839e-093.7762

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NIJMEGEN BREAKAGE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HOLOPROSENCEPHALY-7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, PALLISTER-HALL SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

49

PLIN1, PTCH1, SOX9, GJA1, HTR1A, FSHB, HNF1B, EIF2B1, GNAS, TGFB1, MAPK8IP1, PTPN11, INSR, GATA4, IL6, CASR, CACNA1D, PPARG, LEP, PRKACA, CACNA1C, PPP1R3A, FOXP3, AKT2, PRKAR1A, BMP2, TP53, ESR1, FSHR, CCND1, PTH, LIPE, CACNA1S, MEN1, GLI3, NBN, PDE4D, HRAS, IRS2, TSHR, GNRH1, PEX5, HAMP, GHSR, SHH, GNAI2, INS, STAT3, PIK3R1

Endocytosis0.004200843.8548

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERTHYROIDISM, NONAUTOIMMUNE, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

36

CAV1, KRAS, IL2RA, GNAS, TGFB1, PTPN11, AP2S1, ALDOA, CASR, NFKB2, PPARG, STAT3, PRKACA, INSR, SLC2A4, GJA1, B2M, CCND1, PTH, HTR1A, IFNG, STAT1, RET, IL6, TP53, HRAS, ITCH, TSHR, GNRH1, USP8, STX16, TP63, INS, LRP6, IRS1, PIK3R1

Asthma0.0002469426.684

{CELIAC DISEASE, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 1, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

5

IRS2, IFNG, HLA-DQB1, PTPN11, HLA-DQA1

Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.01442995.6412

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 46,XX SEX REVERSAL, TYPE 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, RESTRICTIVE DERMOPATHY, LETHAL, MALOUF SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, TIMOTHY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MANDIBULOACRAL DYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

10

CACNA1S, SOX9, PTPN1, GJA1, LMNA, CACNA1C, ESR1, IGF2, CACNA1D, TCF7L2

Viral myocarditis0.003756315.649

SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}

9

HLA-DQB1, B2M, CAV1, CCND1, PTEN, SOX9, HLA-DQA1, IFNG, PIK3R1

Steroid hormone biosynthesis7.40665e-125.8232

PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MODY, TYPE I, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

26

EIF2B1, SRD5A3, NR5A1, TGFB1, AKR1C2, GATA4, CYP11B2, IL6, PPARG, HNF4A, LEP, HSD3B2, MSMO1, VDR, SRD5A2, NR0B1, HSD17B3, CYP17A1, AKR1C4, CYP11B1, POR, CYP21A2, NR3C1, HSD11B1, ESR1, INS

Chagas disease (American trypanosomiasis)0.001297654.931

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, CAMURATI-ENGELMANN DISEASE, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

22

FGFR1, GJA1, GNAS, TGFB1, PTPN11, ATM, STAT1, GNA11, STAT3, INSR, AKT2, KISS1R, TP53, BTK, B2M, IL6, IFNG, PROK2, NR3C1, ESR1, GNAI2, PIK3R1

African trypanosomiasis0.009279656.6811

SHORT SYNDROME, TUBEROUS SCLEROSIS 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ATAXIA-TELANGIECTASIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

11

ATM, PTPN1, IL6, IFNG, PIK3R1, GJA1, APOA1, PTPN11, BTK, PTEN, HRAS

Amoebiasis0.03966454.628

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

22

SOX9, GNA11, GJA1, GNAS, TGFB1, IGF2, ATM, VHL, BMP2, PRKACA, LEP, IFNG, B2M, IL6, CDKN1B, PROK2, HRAS, IRS1, STAT3, PIK3R1, GNAI2, SHH

Toxoplasmosis0.001578734.6117

SHORT SYNDROME, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ADRENAL CORTICAL CARCINOMA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

19

STAT1, KRAS, IL6, CCND1, LEP, SHH, IFNG, GJA1, PPARG, STAT3, HLA-DQB1, ESR1, PIK3R1, AKT2, HLA-DQA1, GNAI2, TGFB1, TP53, PTPN11

Wnt signaling pathway1.42893e-074.3638

MULLERIAN APLASIA AND HYPERANDROGENISM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MODY, TYPE I, CULLER-JONES SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME

32

WNT7A, PRKACA, WNT3, GDNF, TCF7L2, ATM, GATA4, CASR, NFKB2, PPARG, BMP2, HNF4A, OTX2, BRCA1, TP53, VDR, CCND1, PTH, CDKN1B, GATA6, MEF2A, PTEN, HRAS, BMP4, WNT4, GLI2, ITPR3, NR3C1, STAT3, LRP6, PITX2, SHH

Infectious diseases: Viral1.97034e-061.84117

MULLERIAN APLASIA AND HYPERANDROGENISM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HARTSFIELD SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

106

PLIN1, LMNA, CAV1, CNBP, GNAS, PPARG, OTX2, PRKAR1A, TAF4B, B2M, FMR1, WT1, NBN, BMP4, CDC73, IRS1, GATA3, GNAI2, NONO, WNT7A, KRAS, APOA1, GLI2, AR, WRN, TCF7L2, THRA, ERCC3, FGFR1, HMGA1, LEP, AKT2, CDKN1B, HLA-DQA1, CCND1, PTH, IFNG, NKX2-1, MEN1, GLUD1, GDNF, FANCA, TP63, INS, LRP6, PITX2, PAX8, GATA1, DDX3X, GJA1, IL2RA, OAS1, NEUROD1, STAT1, CASR, CTDP1, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, NDN, TP53, IRS2, GLI3, POLD1, CDKN1C, HNF1A, PTPN1, PEX5, HAMP, BTK, LYZ, NRAS, POLR3A, STUB1, RETN, EIF2B1, WNT3, TGFB1, ENTPD1, ATM, GATA6, EIF2AK3, STAT3, PRKACA, CACNA1C, INSR, PTPN11, BLM, IL6, STAR, GATA4, RET, PTEN, HRAS, HLA-DQB1, WNT4, DNAJC3, POLR3B, NR3C1, ESR1, PIK3R1, HFE, SHH

Immune diseases1.10426e-053.1359

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, BECKWITH-WIEDEMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, IMAGE SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLYCOGEN STORAGE DISEASE XII, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PREMATURE OVARIAN FAILURE 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {HASHIMOTO THYROIDITIS}, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

52

ALDOA, POLR3A, GJA1, IL2RA, FSHR, AR, IGF2, TGFB1, NR5A1, PTPN11, ATM, STAT1, AIRE, PITX2, PPARG, STAT3, LEP, FOXP3, BMP2, CDKN1B, BTK, VDR, ESR1, B2M, GNAI2, CCND1, IFNG, TG, HLA-DQB1, NKX2-1, TRH, POU1F1, HLA-DQA1, IL6, TP53, CTLA4, PTEN, HRAS, CDKN1C, TSHB, TSHR, PEX5, XRCC4, IRS2, TP63, ACP5, GATA3, TPO, LYZ, INS, IRS1, PIK3R1

Cancers: Overview5.88758e-071.35150

MULLERIAN APLASIA AND HYPERANDROGENISM, PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, KOWARSKI SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, SHORT SYNDROME, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTISONE REDUCTASE DEFICIENCY 2, SERKAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

142

GATA1, DYRK1B, USP8, CAV1, APPL1, IGSF1, TSC2, KISS1, CNBP, GNAS, MAPK8IP1, ALDOA, TBX3, TP63, PPARG, OTX2, PRKAR1A, GJA1, BTK, B2M, STK11, FGF17, WT1, ITCH, BCOR, PPP1R15B, NBN, BMP4, POR, TNXB, SALL1, HSD11B1, GATA3, GNAI2, THRB, PTEN, ARNT2, PTCH1, WNT7A, ITPR3, SOX2, APOA1, GLI2, NKX2-5, AR, IGF2, TCF7L2, ERCC3, FGFR1, SOX3, HMGA1, LEP, AKT2, STAR, FSHR, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, GDNF, GLI3, MAX, PTPN1, STAT3, DUSP6, INS, LRP6, NFKB2, PAX8, PLIN1, DDX3X, GNA11, SLC2A2, SOX9, ARX, NEUROD1, STAT1, CASR, GCK, VHL, HNF4A, BMP2, FOXP3, BRCA1, KRAS, VDR, HTR1A, TP53, GPD2, LHX4, CDKN1C, HNF1A, TSHR, NONO, GH1, HAMP, TAF4B, PCSK1, NRAS, IRS1, POLR3A, HDAC8, BMPR1B, EIF2B1, NR5A1, TGFB1, WNT3, PTPN11, ATM, GATA6, KMT2D, EIF2AK3, GCGR, NSD1, SPRY4, ESR1, PRKACA, CACNA1C, INSR, AKR1C2, SLC2A4, PITX2, BLM, IL6, CDKN1B, GATA4, RET, MEF2A, HRAS, IRS2, WNT4, GNRH1, POLR3B, STX16, NR3C1, TSC1, PIK3R1, HFE, DICER1, SHH

Cancers: Specific types9.35901e-092.8375

MULLERIAN APLASIA AND HYPERANDROGENISM, ?WEBB-DATTANI SYNDROME, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CULLER-JONES SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FUHRMANN SYNDROME, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SERKAL SYNDROME, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MULTIPLE ENDOCRINE NEOPLASIA 1, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, HOLOPROSENCEPHALY-7, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, RABSON-MENDENHALL SYNDROME, KABUKI SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

70

PTCH1, SOX9, MEN1, PPARG, SOX2, APPL1, TP53, TSC2, NKX2-5, AR, NR5A1, TGFB1, WNT3, PTPN11, INSR, NEUROD1, GATA4, KMT2D, IL6, TCF7L2, GJA1, STAT1, VHL, OTX2, PRKACA, HMGA1, LEP, PRKAR1A, BMP4, AKT2, BMP2, KRAS, DYRK1B, VDR, PAX8, BRCA1, LHX3, SRD5A2, PTH, FGFR1, CDKN1B, WT1, AP2S1, PITX2, NRAS, NKX2-1, RET, GLI3, NBN, PTEN, HRAS, FGF17, MAX, GDNF, IRS2, WNT4, PTPN1, ESR1, IRS1, ARNT2, HAMP, CCND1, STAT3, DUSP6, SHH, WNT7A, INS, LRP6, GLI2, PIK3R1

Endocrine and metabolic diseases1.45179e-163.469

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CULLER-JONES SYNDROME, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE II, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WOLCOTT-RALLISON SYNDROME, SHORT SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, MODY, TYPE I, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MULTIPLE ENDOCRINE NEOPLASIA 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, TUBEROUS SCLEROSIS-1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COCKAYNE SYNDROME, TYPE A, RENAL CYSTS AND DIABETES SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

65

SOX9, SDHD, KCNJ11, APPL1, GJA1, SLC2A2, TP53, NDUFS1, STUB1, OTX2, PRKACA, AR, TGFB1, MAPK8IP1, PTPN11, NEUROD1, IL6, EIF2AK3, CACNA1D, GCK, PPARG, INSR, HNF4A, CACNA1C, IRS2, LEP, NEUROG3, AKT2, NR3C1, ERCC8, IFNG, VDR, ESR1, B2M, STK11, SLC2A4, CCND1, STAR, HLA-DQB1, PAX4, NDUFB11, HNF1B, MEN1, HLA-DQA1, SDHB, MT-CO3, PTEN, HRAS, BMP4, ITCH, HNF1A, TSHR, GNRH1, PDX1, GLI2, HAMP, CYC1, TSC1, AIRE, LYZ, INS, STAT3, ABCC8, IRS1, PIK3R1

Gap junction0.003366145.1327

PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, HYPERPROINSULINEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

19

NRAS, GNAS, ERCC3, CASR, PTH, PIK3R1, GJA1, GNA11, SOX9, ICK, ITPR3, STAT3, PRKACA, GNAI2, INS, KRAS, TGFB1, TP53, HRAS

Substance dependence0.01289433.5253

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL

39

PLIN1, SOX9, KCNJ5, CAV1, KRAS, APOA1, PDE4D, NR3C1, GNAS, TGFB1, ATM, IL6, CASR, CACNA1D, PPARG, INSR, PDE11A, CACNA1C, LEP, FOXP3, PRKAR1A, GJA1, VDR, CCND1, PTH, HDAC8, NRAS, NBN, PTEN, HRAS, PRKACA, GNRH1, POLR3B, HAMP, ESR1, GNAI2, INS, PITX2, PIK3R1

Cardiovascular diseases6.32829e-113.8648

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERTHYROIDISM, NONAUTOIMMUNE, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MALOUF SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

37

SOX9, CAV1, GJA1, LMNA, IGF2, TGFB1, GNAS, PTPN11, PDE4D, IL6, CACNA1D, BMP2, PRKACA, CACNA1C, LEP, FOXP3, TCF7L2, TP53, ESR1, B2M, STK11, HLA-DQA1, CCND1, IFNG, BMP4, CACNA1S, HRAS, HLA-DQB1, TSHR, PTPN1, IRS1, NR3C1, TP63, GNAI2, INS, PTEN, PIK3R1

Rheumatoid arthritis0.0005264594.8721

AXENFELD-RIEGER SYNDROME, TYPE 1, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TUBEROUS SCLEROSIS 2, GLYCOGEN STORAGE DISEASE XII, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {HASHIMOTO THYROIDITIS}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPERPROINSULINEMIA, SHORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

17

ACP5, ALDOA, IL6, TGFB1, IFNG, TP53, HLA-DQB1, STAT3, PTPN11, HLA-DQA1, PIK3R1, INS, PITX2, CTLA4, PTEN, HRAS, TP63

Autoimmune thyroid disease6.50029e-105.821

HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPERTHYROIDISM, NONAUTOIMMUNE, TUBEROUS SCLEROSIS 2, {HASHIMOTO THYROIDITIS}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CAMURATI-ENGELMANN DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

17

TSHR, STAT1, HRAS, IL6, TSHB, CTLA4, IFNG, TG, B2M, HLA-DQB1, STAT3, TRH, PTPN11, HLA-DQA1, INS, TGFB1, TPO

Inflammatory bowel disease (IBD)5.73384e-065.5513

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

14

VDR, STAT1, IL6, IFNG, GJA1, PPARG, STAT3, HLA-DQB1, ESR1, FOXP3, HLA-DQA1, GATA3, TGFB1, IRS1

Long-term depression0.009191565.6918

SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ATAXIA-TELANGIECTASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ESTROGEN RESISTANCE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OVARIAN DYSGENESIS 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2

14

ATM, NRAS, GNAI2, ITPR3, GJA1, GNA11, STAT3, ESR1, PIK3R1, SOX9, FSHR, GNAS, KRAS, HRAS

Salivary secretion0.009619785.1527

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

18

ATM, PDE4D, APOA1, CASR, IL6, GNRH1, ITPR3, TP53, SOX9, PPARG, B2M, PRKACA, CACNA1C, LEP, LYZ, INS, GNAS, GNAI2

Tuberculosis0.03448683.8221

SHORT SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GLYCOGEN STORAGE DISEASE XII, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LIPOID ADRENAL HYPERPLASIA, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, VITAMIN D-DEPENDENT RICKETS, TYPE I, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2

27

FGA, ALDOA, KRAS, APOA1, TGFB1, CYP27B1, STAT1, TP63, PRKACA, AKT2, GJA1, BTK, VDR, ESR1, B2M, IL6, PTH, STAR, MEF2A, TP53, HRAS, HLA-DQB1, PTPN1, IFNG, STAT3, HLA-DQA1, PIK3R1

Allograft rejection0.002216246.415

{CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY

5

HLA-DQB1, IFNG, IL2RA, B2M, HLA-DQA1

Jak-STAT signaling pathway0.0001993834.5929

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ?HYPERPROLACTINEMIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, LARON DWARFISM, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

26

GATA1, GJA1, IL2RA, TGFB1, PTPN11, STAT1, IL6, SPRY4, STAT3, LEP, FOXP3, GHR, AKT2, BMP2, BTK, CCND1, IFNG, PRLR, HRAS, IRS2, PTPN1, IRS1, GH1, ESR1, INS, PIK3R1

Nervous system0.004541462.4783

?PRECOCIOUS PUBERTY, CENTRAL, 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HARTSFIELD SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HAMAMY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SHORT SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOME BIOGENESIS DISORDER 2B, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

70

PLIN1, AIP, NRAS, KCNJ5, AR, CAV1, PPARG, IRX5, NFKB2, IL2RA, SOX9, PEX5, NR3C1, EIF2B1, GNA11, FSHR, GNAS, TGFB1, MAPK8IP1, PTPN11, INSR, ATM, AP2S1, IL6, CASR, PITX2, FGFR1, STAT3, PRKACA, CACNA1C, LEP, LMNA, FOXP3, AKT2, KISS1R, BMP2, KRAS, BTK, VDR, ESR1, TSC2, LYZ, CCND1, PTH, HTR1A, TP53, GATA4, ICK, CACNA1S, SHOC2, MEF2A, PTEN, HRAS, PTPN1, GJA1, POR, TSHR, GNRH1, IRS1, ITPR3, BMPR1B, IRS2, TP63, GNAI2, SLC2A4, INS, ABCC8, PDE4D, CACNA1D, PIK3R1

Excretory system6.66407e-074.3547

HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, CULLER-JONES SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, BARTTER SYNDROME, TYPE 4B, DIGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

35

CAV1, KRAS, HNF1B, AR, SCNN1B, TGFB1, GNAS, ATM, AP2S1, IL6, AVP, FGFR1, ESR1, PRKACA, INSR, FOXP3, HRAS, VDR, GNAI2, KCNJ1, PTH, TP53, CLCNKB, SCNN1G, GLUD1, GDNF, BSND, PTPN1, GLI2, NR3C1, STAT3, SEC23B, INS, IRS1, PIK3R1

Digestive system3.54287e-052.6874

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, LEPRECHAUNISM, BARTTER SYNDROME, TYPE 2, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PANCREATIC AGENESIS 1, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPOID ADRENAL HYPERPLASIA, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MENTAL RETARDATION, X-LINKED 102, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, FUHRMANN SYNDROME, PREMATURE OVARIAN FAILURE 7, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, ACRODERMATITIS ENTEROPATHICA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

70

FGA, SOX9, TTR, CAV1, SLC40A1, PPARG, GJA1, SLC2A2, APOA1, PDE4D, HNF1B, RETN, NR3C1, NR5A1, TGFB1, SLC39A4, PTPN11, INSR, ATM, CACNA1C, STAT1, CCND1, DDX3X, CASR, CACNA1D, VHL, BMP2, HNF4A, CDKN1B, CEL, LEP, AKT2, WNT7A, BTK, LIPE, G6PC3, VDR, ESR1, B2M, SLC19A2, LYZ, KCNJ1, PTH, STAR, GATA4, GNAS, TRH, KISS1, IL6, GDNF, TP53, HRAS, SLC37A4, FXN, HNF1A, PTPN1, DNAJC3, PRKACA, IFNG, IRS1, ITPR3, HAMP, AGPAT2, GNRH1, STAT3, PDX1, GNAI2, INS, PTEN, PIK3R1

Circulatory system0.01537923.4649

?PRECOCIOUS PUBERTY, CENTRAL, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LIPOID ADRENAL HYPERPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

40

PLIN1, NRAS, FGFR1, KRAS, SOX9, HNF1B, GNAS, MEF2A, PTPN11, ATM, PDE4D, TBX3, CACNA1D, GNA11, ESR1, PRKACA, CACNA1C, PPP1R3A, PRKAR1A, AKT2, KISS1R, TP53, FSHR, IL6, PTH, STAR, CACNA1S, TRH, SCNN1G, MT-CO3, HRAS, CASR, CYC1, ITPR3, NR3C1, STAT3, GNAI2, ABCC8, IRS1, PIK3R1

Endocrine system8.13897e-201.84148

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, FUHRMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THYROID DYSHORMONOGENESIS 1, SERKAL SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, CULLER-JONES SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLYCEROL KINASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, ADRENAL CORTICAL CARCINOMA, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, THYROID DYSHORMONOGENESIS 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PENDRED SYNDROME

138

TSC2, CAV1, SLC5A5, PDE4D, KISS1, GNAS, TBX19, GLI3, PPARG, CDKN1B, OTX2, PRKAR1A, GJA1, BTK, B2M, STK11, LIPE, TG, WT1, NBN, BMP4, POR, IRS1, NRAS, POU1F1, GNAI2, THRB, PEX5, WNT7A, SOX2, APOA1, GLI2, SLC26A4, NKX2-5, AR, FSHR, IGF2, TCF7L2, THRA, GNRHR, CACNA1D, FGFR1, HMGA1, LEP, AKT2, IFNG, GK, CCND1, PTH, NR0B1, ICK, PRLR, NKX2-1, MEN1, GDNF, CUL7, TSHR, STAT3, DUSP6, INS, LRP6, GCK, PAX8, PLIN1, KCNJ11, GNA11, SLC2A2, SOX9, HNF1B, KCNJ5, NEUROD1, TSHB, STAT1, CASR, CTDP1, PITX2, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, HRAS, BRCA1, KRAS, VDR, HTR1A, TP53, FOXL2, MAPK8IP1, PTPN1, PTEN, ITPR3, HAMP, G6PC3, LYZ, SERPINC1, SEMA3A, LHB, RETN, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, WNT3, PTPN11, ATM, GATA6, GCGR, APPL1, TSC1, PRKACA, CACNA1C, INSR, DUOX2, SLC2A4, FMR1, IL6, PIK3R1, STAR, GATA4, CACNA1S, FSHB, TRH, DUOXA2, IYD, MEF2A, ABCC8, HSD3B2, IRS2, WNT4, GNRH1, NR3C1, TPO, ESR1, SHH, CYP17A1, PDX1

Immune system0.0031291.64111

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, {HASHIMOTO THYROIDITIS}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, IMAGE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

102

PLIN1, CAV1, APPL1, CNBP, GP1BA, GNAS, NRXN1, ALDOA, TBX3, TP63, PPARG, PRKAR1A, KISS1R, BTK, FGA, B2M, FMR1, ITCH, NDUFB11, PROK2, BMP4, IRS1, SALL1, GATA3, GNAI2, SOX9, XRCC4, KRAS, APOA1, AR, WRN, RNF216, ERCC3, HMGA1, LEP, AKT2, STAR, HLA-DQA1, CCND1, PTH, IFNG, AP2S1, MEN1, PTPN1, STAT3, INS, LRP6, PITX2, GATA1, DDX3X, GJA1, IL2RA, NRAS, STAT1, CASR, CTDP1, NFKB2, BMP2, FOXP3, BRCA1, NDUFS1, HTR1A, TP53, IRS2, MAPK8IP1, CDKN1C, HNF1A, TSHR, PTEN, ITPR3, LYZ, SERPINC1, POLR3A, STUB1, NR3C1, NR5A1, TGFB1, PTPN11, ATM, GATA4, GCGR, DICER1, SPRY4, PRLR, PRKACA, FXN, INSR, IL6, CDKN1B, MEF2A, CTLA4, ABCC8, HRAS, HLA-DQB1, RNF125, GNRH1, POLR3B, BMPR1B, ESR1, PIK3R1, HFE, SHH

Serotonergic synapse4.80107e-074.7338

ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ESTROGEN RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MALOUF SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

29

NRAS, CAV1, KRAS, HTR1A, LMNA, KCNJ5, GNAS, ATM, GATA4, CASR, CACNA1D, PPARG, ESR1, PRKACA, CACNA1C, BMP2, FSHR, IL6, PTH, CACNA1S, HRAS, PTPN1, GNRH1, ITPR3, NR3C1, STAT3, GNAI2, ABCC8, PIK3R1

Environmental adaptation0.0152224.6926

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, 46,XX SEX REVERSAL, TYPE 2, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

21

ATM, PDE4D, MTNR1B, CASR, CACNA1D, PTH, PPARG, TP53, SOX9, ITPR3, IRS2, KCNJ5, PRKACA, CACNA1C, ESR1, NR3C1, SLC2A4, STAT3, GNAS, NONO, GNAI2

Development0.01685113.2457

GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, HYPERTHYROIDISM, NONAUTOIMMUNE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, BECKWITH-WIEDEMANN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, PLEUROPULMONARY BLASTOMA, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?HYPERPROLACTINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

48

GATA1, NRAS, APPL1, KRAS, TP53, SOX9, BMPR1B, AR, SEMA3E, TGFB1, GNAS, PTPN11, ACP5, IL6, NFKB2, PPARG, STAT3, LEP, BMP4, AKT2, EIF2B2, BMP2, IFNG, BTK, ESR1, B2M, FGFR1, CCND1, PTH, FMR1, STAT1, GATA4, MAPK8IP1, PTEN, HRAS, GATA6, CDKN1C, TSHR, PTPN1, IRS1, SEMA3A, PRLR, GATA3, SHH, GNAI2, INS, DICER1, PIK3R1

Aldosterone-regulated sodium reabsorption0.01410946.8814

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, RABSON-MENDENHALL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BARTTER SYNDROME, TYPE 2, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RENAL CYSTS AND DIABETES SYNDROME, LIDDLE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEPRECHAUNISM, HYPERPROINSULINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

10

KCNJ1, IRS1, INSR, SCNN1G, STAT3, HNF1B, INS, SCNN1B, KRAS, PIK3R1

TGF-beta signaling pathway0.0005190095.323

HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

21

BMP4, CAV1, IRS1, CCND1, FSHB, IFNG, FGFR1, TP53, SOX9, PPARG, BMP2, BMPR1B, GATA4, CDKN1B, ESR1, PTEN, SHH, LHX3, TGFB1, PITX2, PIK3R1

Signal transduction1.78736e-060.87193

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, COCKAYNE SYNDROME, TYPE A, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SHORT SYNDROME, FUHRMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SERKAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

179

GATA1, DYRK1B, CAV1, APPL1, IRX5, PDE4D, KISS1, CNBP, MTNR1B, GNA11, GNAS, GLI3, NRXN1, CYP11B2, KCNJ11, TBX3, PPARG, CDKN1B, OTX2, PRKAR1A, EIF2B2, G6PC3, FGA, B2M, KISS1R, STK11, AKT2, FMR1, KIF1B, WT1, ITCH, BCOR, FANCA, PROK2, WNT4, HSD17B4, NBN, BMP4, CDC73, TNXB, SALL1, EIF2B4, GHSR, GATA3, GNAI2, GAS1, HTR1A, THRB, GLI2, PTCH1, WNT7A, GH1, SOX2, NFKB2, APOA1, SCNN1G, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, ERCC3, FSHB, CACNA1D, FGFR1, BLK, HMGA1, LEP, LMNA, LHX3, STAR, FSHR, CCND1, PTH, NR0B1, AP2S1, ICK, NRAS, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, PTPN1, IFNG, TP63, DUSP6, INS, LRP6, GCK, PAX8, PLIN1, TTR, DDX3X, SHH, GJA1, IL2RA, SHOC2, HNF1B, USP9X, GHR, STAT1, KRAS, CASR, PITX2, SOX9, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, BRCA1, NDN, SEMA3A, VDR, TSC2, WRN, RAB23, TP53, NONO, MAPK8IP1, POLD1, ERCC8, FGF17, CDKN1C, TSHR, PTEN, ITPR3, PAX4, TSC1, BTK, LYZ, STAT3, AIP, SERPINC1, IRS1, POLR3A, LHB, RETN, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, WNT3, PTPN11, ATM, GATA6, TACR3, SPRY4, ESR1, PRKACA, CACNA1C, INSR, SLC2A4, LIPE, ALDOA, IL6, MARS, GATA4, CACNA1S, STRADA, TRH, RET, MEF2A, CTLA4, ABCC8, HRAS, IRS2, EIF2AK3, GNRH1, POLR3B, NR3C1, PRLR, GCGR, PEX5, PIK3R1

Signaling molecules and interaction7.5316e-051.92100

HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?HYPERPROLACTINEMIA, LARON DWARFISM, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FUHRMANN SYNDROME, HYPERPROINSULINEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA IIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PITT-HOPKINS-LIKE SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LIPOID ADRENAL HYPERPLASIA, {HASHIMOTO THYROIDITIS}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

92

FSHB, CAV1, GP1BA, GNAS, NRXN1, PPARG, KISS1R, BTK, FGA, B2M, LHCGR, FMR1, WT1, NDUFB11, PROK2, BMP4, IRS1, GHSR, GNAI2, THRB, TNXB, WNT7A, MTNR1B, GH1, APOA1, AR, IGF2, THRA, GNRHR, POU1F1, HMGA1, LEP, STAR, FSHR, HLA-DQA1, CCND1, PTH, IFNG, PRLR, TSHB, TP63, INS, LRP6, GATA1, TTR, GJA1, IL2RA, SOX9, GHR, STAT1, CASR, PITX2, VHL, BMP2, FOXP3, BRCA1, HTR1A, TP53, IRS2, MAPK8IP1, HNF1A, PTPN1, PTEN, ITPR3, LYZ, LHB, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, TSHR, GATA4, TACR3, GCGR, STAT3, PRKACA, CACNA1C, IL6, CDKN1B, TRH, RET, CTLA4, HRAS, HLA-DQB1, GNRH1, NR3C1, ESR1, PIK3R1, SHH

Inflammatory mediator regulation of TRP channels0.02922724.9229

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, HYPERPROINSULINEMIA, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

19

ATM, PLIN1, FSHR, CASR, IL6, PTH, TP53, ITPR3, ESR1, PRKACA, STAT3, PIK3R1, GNAI2, PTPN11, INS, GNAS, TGFB1, MEF2A, HRAS

Acute myeloid leukemia0.0004955816.018

SHORT SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MICROPHTHALMIA, SYNDROMIC 6, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

11

GATA1, BMP4, CCND1, PIK3R1, KRAS, STAT3, NRAS, ESR1, TCF7L2, AKT2, HRAS

Cell growth and death0.0003726873.3166

HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, 3-M SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, CARNEY COMPLEX, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, PREMATURE OVARIAN FAILURE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, IMAGE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, KENNY-CAFFEY SYNDROME, TYPE 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MULTIPLE ENDOCRINE NEOPLASIA 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

50

PLIN1, TSC2, STAG3, CAV1, FGFR1, APOA1, PRKACA, AR, IGF2, TGFB1, WRN, TCF7L2, ATM, THRA, IL6, PPARG, ESR1, TBCE, INSR, FOXP3, BMP4, BRCA1, NDN, PRKAR1A, MCM4, IFNG, STK11, AKT2, CCND1, CDKN1B, STAT1, ICK, STEAP3, GNAS, MEN1, MEF2A, TP53, POLD1, PTPN11, HRAS, CDKN1C, CYC1, ITPR3, NR3C1, STAT3, GNAI2, INS, CUL7, PTEN, PIK3R1

Maturity onset diabetes of the young9.08287e-076.8419

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ESTROGEN RESISTANCE, 46,XX SEX REVERSAL, TYPE 2, RENAL CYSTS AND DIABETES SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, MODY, TYPE I, HYPERPARATHYROIDISM 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MODY, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERPROINSULINEMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, PANCREATIC AGENESIS 1

15

NEUROD1, PAX4, HNF1A, MEN1, HNF1B, PDX1, GCK, ESR1, HNF4A, STAT3, STUB1, SOX9, INS, SLC2A2, NEUROG3

Melanoma6.19614e-065.6722

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, RABSON-MENDENHALL SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

21

BMP4, FGFR1, KRAS, AKT2, CCND1, LEP, SHH, PTEN, FGF17, PPARG, STAT3, NRAS, ESR1, DUSP6, PIK3R1, SOX9, TP53, TGFB1, IRS1, HRAS, INSR

Hedgehog signaling pathway1.37603e-056.222

MULLERIAN APLASIA AND HYPERANDROGENISM, CULLER-JONES SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-9, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, HOLOPROSENCEPHALY-7, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, FUHRMANN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, PALLISTER-HALL SYNDROME, ?TETRA-AMELIA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CARPENTER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME

17

PTCH1, BMP4, WNT4, CCND1, GLI2, TBX19, PTEN, RAB23, GAS1, PRKACA, BMP2, OTX2, WNT7A, LRP6, GLI3, WNT3, SHH

Antigen processing and presentation0.0001063345.4413

TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ADRENAL CORTICAL CARCINOMA, HYPERTHYROIDISM, NONAUTOIMMUNE, LEOPARD SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

12

TSHR, STAT1, CCND1, IL6, TP53, B2M, HLA-DQB1, LEP, AR, HLA-DQA1, IFNG, PTPN11

Endometrial cancer0.000196356.1111

SHORT SYNDROME, RABSON-MENDENHALL SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, ADRENAL CORTICAL CARCINOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

11

NRAS, KRAS, CCND1, PIK3R1, TP53, ESR1, INSR, TCF7L2, AKT2, PTEN, HRAS

Colorectal cancer0.0009891925.7813

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERPROINSULINEMIA

12

CCND1, PIK3R1, TP53, APPL1, ESR1, STAT3, TCF7L2, AKT2, INS, TGFB1, KRAS, HRAS

Thyroid cancer4.92712e-096.8812

MULTIPLE ENDOCRINE NEOPLASIA IIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

12

PAX8, NRAS, CCND1, TP53, PPARG, NKX2-1, NR3C1, ESR1, TCF7L2, RET, KRAS, HRAS

Basal cell carcinoma3.28593e-086.0721

MULLERIAN APLASIA AND HYPERANDROGENISM, AXENFELD-RIEGER SYNDROME, TYPE 1, MICROPHTHALMIA, SYNDROMIC 6, FUHRMANN SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HOLOPROSENCEPHALY-7, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BANNAYAN-RILEY-RUVALCABA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PALLISTER-HALL SYNDROME, HOLOPROSENCEPHALY-9, ADRENAL CORTICAL CARCINOMA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SERKAL SYNDROME, CULLER-JONES SYNDROME, ?TETRA-AMELIA SYNDROME

16

PTCH1, BMP4, WNT4, LRP6, PTEN, GLI2, PRKACA, BMP2, OTX2, SHH, WNT7A, WNT3, PITX2, GLI3, TP53, TCF7L2

Prostate cancer2.51822e-055.3222

HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERPROINSULINEMIA, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, RABSON-MENDENHALL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

18

AR, NRAS, KRAS, IL6, CCND1, PIK3R1, CDKN1B, FGFR1, INSR, ESR1, PTEN, SRD5A2, TCF7L2, AKT2, DYRK1B, INS, TP53, HRAS

Lipid metabolism6.92875e-062.9173

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, PREMATURE OVARIAN FAILURE 7, PERRAULT SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERPROINSULINEMIA, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OLIVER-MCFARLANE SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, CHILD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GLYCEROL KINASE DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46XY SEX REVERSAL 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BOUCHER-NEUHAUSER SYNDROME, PERRAULT SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ADRENAL CORTICAL CARCINOMA, CORNELIA DE LANGE SYNDROME 5, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, TUBEROUS SCLEROSIS 2, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MANDIBULOACRAL DYSPLASIA, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PEROXISOME BIOGENESIS DISORDER 2B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CORTISONE REDUCTASE DEFICIENCY 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

65

LMNA, HSD17B4, EIF2B5, CAV1, VHL, GJA1, HDAC8, GK, EIF2B1, NR5A1, TGFB1, AKR1C2, PPARG, CYP27B1, AGPAT2, GATA4, KRAS, SRD5A2, INS, AMACR, PNPLA6, HNF4A, CEL, LEP, HRAS, AKT2, MSMO1, IFNG, VDR, ATM, ALDOA, BRCA1, HADH, PTH, APOA1, SRD5A3, AR, HSD17B3, CYP17A1, GPD2, TRH, FANCM, HSD3B2, IL6, CYP11B2, TP53, NSDHL, AKR1C4, PTPN1, CYP11B1, FANCA, TSHR, ESR1, PEX5, CYP21A2, PNPLA2, NR3C1, HSD11B1, GNRH1, STAT3, SIL1, C10orf2, LIPC, POR, PIK3R1

Cell adhesion molecules (CAMs)0.02884154.0223

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE OVARIAN FAILURE 7, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, {HASHIMOTO THYROIDITIS}, 46XY SEX REVERSAL 3, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {CELIAC DISEASE, SUSCEPTIBILITY TO}

21

AR, STAT1, NRXN1, HNF1A, CCND1, IL6, PTPN11, TGFB1, IFNG, PPARG, B2M, NR3C1, HLA-DQB1, CAV1, PIK3R1, LYZ, HLA-DQA1, NR5A1, CTLA4, PTEN, HRAS

Taste transduction0.01009286.2118

LIDDLE SYNDROME, [PHENYLTHIOCARBAMIDE TASTING], {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, PSEUDOPSEUDOHYPOPARATHYROIDISM, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

11

TAS2R38, APOA1, ITPR3, STAT3, SCNN1G, ESR1, PRKAR1A, PRKACA, GNAI2, SCNN1B, GNAS

FoxO signaling pathway4.31531e-054.2538

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HARTSFIELD SYNDROME, LEPRECHAUNISM, LIDDLE SYNDROME, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

35

NRAS, FGFR1, KRAS, SCNN1G, AR, TGFB1, MEF2A, PTPN11, ATM, IL6, CASR, PPARG, STAT3, PRKACA, INSR, BRCA1, TP53, G6PC3, ESR1, STK11, SLC2A4, CCND1, CDKN1B, IRS2, ICK, AKT2, MAPK8IP1, HRAS, ITCH, IRS1, TSC1, GNAI2, INS, PTEN, PIK3R1

HIF-1 signaling pathway0.008589544.9327

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, MODY, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SHORT SYNDROME, ESTROGEN RESISTANCE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

22

TTR, ALDOA, GJA1, IGF2, TGFB1, PTPN11, INSR, GCK, VHL, STAT3, LEP, AKT2, IFNG, IL6, CDKN1B, MEF2A, HRAS, FANCA, PTPN1, ESR1, INS, PIK3R1

Type I diabetes mellitus0.001454825.912

TUBEROUS SCLEROSIS 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {HASHIMOTO THYROIDITIS}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

8

B2M, IL6, IFNG, HLA-DQB1, HLA-DQA1, INS, CTLA4, PTEN

Cytokine-cytokine receptor interaction0.02512873.4840

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, LARON DWARFISM, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

40

GATA1, SOX9, CAV1, GH1, GJA1, APOA1, RETN, TGFB1, GHR, STAT1, CASR, GCGR, PPARG, GHSR, HMGA1, LEP, FOXP3, PTPN11, BMP2, IFNG, ESR1, IL6, IL2RA, CDKN1B, GATA4, NDUFB11, PROK2, TP53, HRAS, BMP4, GNRH1, IRS1, ITPR3, BMPR1B, IRS2, PRLR, SHH, STAT3, PTEN, PIK3R1

Steroid biosynthesis0.04627337.727

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, CHILD SYNDROME

7

CYP27B1, POR, PTH, CEL, MSMO1, NSDHL, HSD3B2

Infectious diseases: Parasitic0.0004473283.0850

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, WOLCOTT-RALLISON SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SHORT SYNDROME, WERNER SYNDROME, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

47

GATA1, SOX9, MEF2A, PPARG, KRAS, APOA1, HLA-DQA1, GNA11, IGF2, TGFB1, WRN, PTPN11, INSR, ATM, STAT1, IL6, EIF2AK3, GJA1, VHL, BMP2, PRKACA, LEP, AKT2, KISS1R, IFNG, BTK, ESR1, B2M, FGFR1, GNAI2, CCND1, PTH, CDKN1B, GNAS, PROK2, MAPK8IP1, TP53, HRAS, HLA-DQB1, PTPN1, IRS1, NR3C1, STAT3, SHH, LYZ, PTEN, PIK3R1

Proteoglycans in cancer4.40066e-073.8553

MULLERIAN APLASIA AND HYPERANDROGENISM, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CULLER-JONES SYNDROME, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FRASIER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HOLOPROSENCEPHALY-7, FUHRMANN SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, SERKAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

45

PLIN1, PTCH1, NRAS, CAV1, KRAS, TP53, WNT7A, IGF2, TGFB1, WNT3, PTPN11, INSR, MEF2A, STAT1, CCND1, CASR, GDNF, PITX2, FGFR1, BMP2, PRKACA, OTX2, TCF7L2, BRCA1, GJA1, ESR1, AKT2, IL6, IFNG, WT1, GATA6, GATA4, GLI3, PTEN, HRAS, BMP4, PTPN1, GLI2, ITPR3, NR3C1, STAT3, SHH, INS, WNT4, PIK3R1

MicroRNAs in cancer0.004101434.330

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PLEUROPULMONARY BLASTOMA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

30

NRAS, IRS1, CAV1, SOX2, AR, WNT3, TGFB1, ATM, STAT1, PITX2, TP63, BMP2, BRCA1, TP53, ESR1, STK11, CCND1, CDKN1B, GATA4, PTEN, HRAS, GATA6, BMP4, KRAS, TNXB, BMPR1B, IRS2, STAT3, DICER1, PAX8

Pathways in cancer1.47432e-102.6595

MULLERIAN APLASIA AND HYPERANDROGENISM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

79

PTCH1, SOX9, MEN1, VHL, SOX2, GJA1, TP53, TSC2, NKX2-5, FGFR1, NR3C1, AR, GNA11, NR5A1, TGFB1, WNT3, TCF7L2, PPARG, ATM, STAT1, KMT2D, IL6, CASR, GDNF, GCGR, NFKB2, SPRY4, OTX2, PRKACA, HMGA1, LEP, FOXP3, BMP4, AKT2, ESR1, WNT7A, PRKAR1A, KRAS, BMP2, LIPE, DYRK1B, VDR, PAX8, FSHR, BRCA1, FGF17, INSR, PTH, HTR1A, CDKN1B, WT1, IRS2, PITX2, GATA4, INS, NKX2-1, RET, GLI3, PTEN, HRAS, MAX, CDKN1C, GNAS, WNT4, TSHR, IFNG, IRS1, ARNT2, NRAS, CCND1, STAT3, DUSP6, SHH, GNAI2, PTPN11, APPL1, LRP6, GLI2, PIK3R1

Viral carcinogenesis0.04547993.839

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ATAXIA-TELANGIECTASIA, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM

35

POLR3B, SOX9, DDX3X, POLR3A, HDAC8, NRAS, NR3C1, AR, TGFB1, ATM, STAT1, CASR, NFKB2, ESR1, PRKACA, BRCA1, IFNG, B2M, CCND1, HTR1A, CDKN1B, MEN1, TP53, PTEN, HRAS, GJA1, KRAS, USP8, HAMP, STAT3, GNAI2, INS, HFE, PITX2, PIK3R1

Transcriptional misregulation in cancer1.71035e-053.6449

MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ?WEBB-DATTANI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LIPOID ADRENAL HYPERPLASIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BECKWITH-WIEDEMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME

46

GATA1, RET, VHL, SOX2, APOA1, NKX2-5, AR, TGFB1, ARX, ATM, STAT1, ERCC3, CCND1, TBX3, NSD1, PPARG, ESR1, OTX2, BRCA1, GATA3, CDKN1B, BTK, PCSK1, NEUROD1, SLC2A4, IL6, PTH, STAR, WT1, GATA6, MEN1, LHX4, TP53, MAX, BMP4, IFNG, WNT4, STX16, SALL1, NR3C1, STAT3, DUSP6, ARNT2, GNAI2, PTEN, PAX8

T cell receptor signaling pathway0.0003114935.0129

PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ESTROGEN RESISTANCE, {HASHIMOTO THYROIDITIS}, 46XY SEX REVERSAL 3, ?HYPERPROLACTINEMIA, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

24

NRAS, KRAS, AR, NR5A1, PTPN11, AP2S1, NFKB2, PPARG, PRLR, INSR, FOXP3, AKT2, CCND1, IFNG, CTLA4, HRAS, PTPN1, IRS1, NR3C1, ESR1, LYZ, INS, STAT3, PIK3R1

Type II diabetes mellitus3.57291e-066.1522

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PANCREATIC AGENESIS 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MODY, TYPE II, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RABSON-MENDENHALL SYNDROME

17

IRS2, IRS1, KCNJ11, CACNA1D, TP53, SLC2A2, MAPK8IP1, LEP, CACNA1C, ESR1, PDX1, SLC2A4, INS, ABCC8, GCK, PIK3R1, INSR

Non-alcoholic fatty liver disease (NAFLD)2.97394e-074.5335

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WOLCOTT-RALLISON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

35

SDHD, APPL1, AR, TGFB1, MT-CO3, PTPN11, INSR, IL6, EIF2AK3, PPARG, TP63, PRKACA, CYC1, SDHB, LEP, AKT2, TP53, NDUFS1, STK11, SLC2A4, CCND1, STAR, IRS2, NDUFB11, MAPK8IP1, HRAS, ITCH, PTEN, HAMP, TSC1, ESR1, INS, STAT3, IRS1, PIK3R1

Insulin secretion0.0001086525.0935

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PANCREATIC AGENESIS 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, MODY, TYPE II, HYPERPROINSULINEMIA, ATAXIA-TELANGIECTASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

21

ATM, CACNA1S, SOX9, PDX1, CASR, KCNJ11, PRKACA, PTH, ITPR3, GCK, SLC2A2, GNA11, HNF1B, CACNA1C, FOXP3, HRAS, INS, ABCC8, GNAS, CACNA1D, TCF7L2

Melanogenesis4.63418e-124.9940

MULLERIAN APLASIA AND HYPERANDROGENISM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CULLER-JONES SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SERKAL SYNDROME

28

SOX9, KRAS, NRAS, GNAS, TBX19, WNT3, TCF7L2, GATA6, CASR, PITX2, BMP2, PRKACA, OTX2, WNT7A, GJA1, CCND1, GDNF, PTEN, HRAS, BMP4, GLI2, ITPR3, HAMP, ESR1, GNAI2, INS, WNT4, SHH

Adrenergic signaling in cardiomyocytes0.01833914.3331

?PRECOCIOUS PUBERTY, CENTRAL, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

25

PLIN1, PDE4D, KRAS, HNF1B, GNAS, PTPN11, ATM, CACNA1D, FGFR1, PRKACA, CACNA1C, PPP1R3A, AKT2, KISS1R, PTH, CACNA1S, TRH, SCNN1G, MEF2A, HRAS, IRS1, NR3C1, STAT3, GNAI2, PIK3R1