ENDOCRINE FEATURES

TermP valueIC# diseasesdiseases# genesgenes
serine-type endopeptidase activity0.02213795.425

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}, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, THYROTROPIN-RELEASING HORMONE DEFICIENCY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}

26

FGA, CAV1, AR, IGF2, TGFB1, BMP2, LEP, TP53, PCSK1, HLA-DQA1, IL6, IFNG, IRS2, TRH, CTNS, CLPP, BMP4, HNF1A, DNAJC3, IRS1, HAMP, STAT3, LYZ, INS, HFE, SHH

monooxygenase activity4.7266e-076.3839

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, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SHORT SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IC, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

24

AR, GNAS, NR5A1, AKR1C2, CYP27B1, GATA6, CYP11B2, ESR1, HNF4A, LEP, MSMO1, VDR, IL6, PTH, IFNG, GATA4, CYP17A1, CYP11B1, POR, GNRH1, CYP21A2, STAT3, INS, PIK3R1

endopeptidase inhibitor activity7.78547e-055.2640

HARTSFIELD SYNDROME, [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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

33

FGA, SERPINC1, TTR, VHL, APOA1, IGF2, ANOS1, STAT1, CCND1, CASR, TGFB1, PITX2, FGFR1, BMP2, LEP, TP53, PCSK1, ESR1, B2M, SPINK1, IL2RA, CDKN1B, IL6, BMP4, TSHR, FANCA, GNRH1, PTEN, STAT3, INS, LRP6, AVP, PIK3R1

collagen binding0.03492056.7617

SHORT SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 6, TUBEROUS SCLEROSIS 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ADRENAL CORTICAL CARCINOMA, {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}

15

CCBE1, FGA, BMP4, B2M, IL6, PTH, IFNG, TP53, STAT3, BMP2, PIK3R1, INS, TGFB1, TNXB, HRAS

molecular transducer activity5.01578e-072.37144

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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOPARATHYROIDISM IA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, 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, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?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, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

142

PDE4D, CAV1, IGSF1, FSHB, SALL1, MTNR1B, GNA11, SEMA3E, GLI3, TCF7L2, ALDOA, TBX3, TP63, PPARG, FLRT3, PRKAR1A, EIF2B2, BTK, FGA, B2M, LHCGR, LHX3, FMR1, WT1, BMP4, SIX3, IRS1, NRAS, GHSR, GATA3, GNAI2, THRB, PEX5, ARNT2, PTCH1, WNT7A, GP1BA, KRAS, APOA1, GLI2, NKX2-5, AR, IGF2, GNAS, RNF216, THRA, ERCC3, IL6, GNRHR, FGFR1, HMGA1, PTH, LEP, AKT2, CDKN1B, FSHR, HLA-DQA1, CCND1, CEL, IFNG, NKX2-1, MEN1, GDNF, PTPN1, LIPC, PROKR2, STAT3, SEC23B, INS, LRP6, NFKB2, PAX8, GATA1, TTR, DDX3X, HFE2, GJA1, IL2RA, HESX1, GHR, NEUROD1, STAT1, CASR, PITX2, SOX9, VHL, KIF1B, HNF4A, BMP2, FOXP3, VDR, HTR1A, TP53, IRS2, MAPK8IP1, KISS1R, CDKN1C, TSHR, PTEN, ITPR3, HAMP, GNRH1, LYZ, AIP, SERPINC1, SEMA3A, STUB1, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, KMT2D, TACR3, GCGR, AVP, PRLR, PRKACA, INSR, AKR1C2, SLC2A4, BLM, TAS2R38, CBX2, PIK3R1, STAR, TRH, RET, MEF2A, ABCC8, HRAS, HLA-DQB1, EIF2AK3, NR0B1, STX16, NR3C1, ESR1, PDX1, HFE, SHH

RNA polymerase II transcription factor binding transcription factor activity2.12128e-125.9343

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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, FRASIER SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?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, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {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, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

37

GATA1, HESX1, SOX2, NKX2-5, NR3C1, AR, NR5A1, TCF7L2, NEUROD1, STAT1, PITX2, PPARG, POU1F1, SOX3, HMGA1, OTX2, BMP4, LHX3, ESR1, IL6, TP53, WT1, SIX3, GATA4, NKX2-1, HNF4A, MEF2A, MAX, ITCH, HNF1A, SALL1, BMPR1B, STAT3, SHH, INS, THRB, PIK3R1

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription7.54636e-165.3158

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, {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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, PANCREATIC AGENESIS 2, 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, 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, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PREMATURE OVARIAN FAILURE 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, PANCREATIC AND CEREBELLAR AGENESIS, 46XY SEX REVERSAL 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PREMATURE OVARIAN FAILURE 5, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, BECKWITH-WIEDEMANN SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

49

GATA1, SOX9, SOX2, HNF1B, NKX2-5, HNF4A, AR, IGF2, TGFB1, NR5A1, TCF7L2, NEUROD1, GATA4, PTF1A, TBX3, GDNF, PITX2, PPARG, STAT3, SOX3, OTX2, LHX3, BMP2, TAF4B, VDR, ESR1, BRCA1, CCND1, TP53, WT1, NKX2-1, GLIS3, POU1F1, MEN1, MEF2A, NEUROG3, BMP4, HNF1A, CNBP, PTEN, SALL1, NR3C1, TP63, GATA3, PDX1, INS, NOBOX, NSD1, SHH

iron ion binding4.77183e-095.3653

PREMATURE OVARIAN FAILURE 7, [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}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PALLISTER-HALL SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SHORT SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ESTROGEN RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MANDIBULOACRAL DYSPLASIA, RABSON-MENDENHALL SYNDROME, KABUKI SYNDROME 1, MALOUF SYNDROME, 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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

38

LMNA, TTR, VHL, APOA1, CP, NR3C1, AR, NR5A1, CYP11B2, CYP27B1, ACP5, KMT2D, PPARG, INSR, FXN, LEP, FOXP3, MSMO1, TP53, VDR, IL6, PTH, IFNG, GATA6, GATA4, INS, GLUD1, GLI3, HSD3B2, CYP11B1, POR, GNRH1, CYC1, CYP21A2, HAMP, ESR1, CYP17A1, PIK3R1

nucleic acid binding transcription factor activity7.6883e-162.75156

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, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, 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, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PREMATURE OVARIAN FAILURE 5, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL 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, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, BAMFORTH-LAZARUS SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 2, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, PENDRED SYNDROME, ESTROGEN RESISTANCE

138

LMNA, PLAGL1, CNBP, GNAS, TBX19, CYP11B2, ALDOA, TBX3, PPARG, SOX2, OTX2, FOXI1, ERCC8, PROP1, BTK, LHCGR, AKT2, ZBTB20, FMR1, WT1, SIX3, NBN, NEUROG3, BMP4, CDC73, IRS1, SALL1, POU1F1, GATA3, GNAI2, THRB, NONO, ARNT2, PTCH1, SOX9, CHD7, KRAS, HTR1A, GLI2, FOXL2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, SOX3, HMGA1, LEP, LHX3, STAR, CCND1, PTH, NR0B1, ICK, AIP, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, IFNG, TP63, DUSP6, TBX1, INS, NOBOX, NFKB2, PAX8, GATA1, TTR, DDX3X, GJA1, HNF1B, ARX, GHR, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, NDN, RSPO1, VDR, TP53, GLI3, CDKN1C, HNF1A, PTEN, GH1, PAX4, TAF4B, ITCH, AIRE, PCSK1, HESX1, POLR3A, HDAC8, STUB1, NR3C1, STK11, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA6, KMT2D, NSD1, STAT3, FOXE1, CBX2, PIK3R1, CDKN1B, FOXD3, GATA4, TRH, RET, ERCC3, MEF2A, HRAS, IRS2, WNT4, GNRH1, POLR3B, STX16, BMPR1B, ESR1, PDX1, DICER1, SHH

cysteine-type endopeptidase inhibitor activity0.005931537.1618

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MICROPHTHALMIA, SYNDROMIC 6, ESTROGEN RESISTANCE, [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}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERPROINSULINEMIA

13

FGA, BMP4, TTR, IL6, GNRH1, VHL, CDKN1B, IL2RA, STAT3, ESR1, INS, TP53, AVP

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription1.19325e-086.7530

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, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, 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, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

24

GATA1, SOX9, CHD7, SOX2, HTR1A, AR, NR5A1, GATA4, PITX2, PPARG, STAT3, SOX3, BMP2, VDR, ZBTB20, TP53, GLIS3, GDNF, NEUROG3, BMP4, NR3C1, ESR1, GATA3, INS

aminoacyl-tRNA ligase activity0.02113387.957

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ?PERRAULT SYNDROME 2, PERRAULT SYNDROME 4, INTERSTITIAL LUNG AND LIVER DISEASE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25

7

MARS2, IARS2, LARS2, SARS2, MARS, AARS2, HARS2

transcription corepressor activity1.54839e-094.8557

MULLERIAN APLASIA AND HYPERANDROGENISM, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIGEORGE SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {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, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CULLER-JONES SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, FRASIER SYNDROME, SERKAL SYNDROME

49

GATA1, SHOC2, CHD7, PPARG, SOX2, TP53, NKX2-5, AR, NR5A1, TGFB1, MAPK8IP1, TCF7L2, NEUROD1, GATA4, IL6, NSD1, VHL, BMP2, SOX3, OTX2, FOXP3, LHX3, KRAS, VDR, ESR1, BRCA1, CCND1, HTR1A, NR0B1, WT1, BMP4, BCOR, NKX2-1, GLIS3, LHX4, MAX, ITCH, HNF1A, WNT4, TSHB, GLI2, SALL1, NR3C1, POU1F1, TBX1, INS, THRB, PTEN, SHH

transcription coactivator activity2.23693e-114.566

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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PITUITARY ADENOMA, ACTH-SECRETING, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THYROID HORMONE RESISTANCE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPERPROINSULINEMIA, OVARIAN DYSGENESIS 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, 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, MENTAL RETARDATION, X-LINKED 102, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, FRAGILE X TREMOR/ATAXIA SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, COCKAYNE SYNDROME, TYPE A, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

61

GATA1, AIP, SOX9, PSMC3IP, DDX3X, PPARG, SOX2, GJA1, TP53, DYRK1B, NKX2-5, NR3C1, AR, NR5A1, TBX19, MEF2A, TCF7L2, NEUROD1, ATM, THRA, ERCC3, IL6, GDNF, NFKB2, VHL, POU1F1, SOX3, HMGA1, NEUROG3, LHX3, ERCC8, FMR1, VDR, ESR1, B2M, BRCA1, CCND1, PTH, CDKN1B, WT1, GATA4, AKT2, HNF4A, MEN1, KMT2D, GLI3, HRAS, BMP4, MAX, ITCH, HNF1A, PTEN, BMPR1B, STAT3, GATA3, PAX8, LYZ, INS, THRB, PITX2, SHH

transcription cofactor activity5.01076e-113.6294

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, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PANHYPOPITUITARISM, X-LINKED, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, VELOCARDIOFACIAL SYNDROME, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SERKAL SYNDROME, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, OVARIAN DYSGENESIS 3, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

87

DYRK1B, SALL1, TBX19, GLI3, TBX3, PPARG, OTX2, RECQL4, AKT2, FMR1, WT1, BCOR, NEUROG3, BMP4, WNT4, POU1F1, GATA3, GNAI2, THRB, PTEN, SHOC2, CHD7, KRAS, HTR1A, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, SOX3, HMGA1, LHX3, CCND1, PTH, NR0B1, NKX2-1, GLIS3, MEN1, GDNF, MAX, TSHB, STAT3, TBX1, INS, PITX2, PAX8, GATA1, DDX3X, GJA1, SOX9, NEUROD1, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, SOX2, VDR, TP53, LHX4, ERCC8, ITCH, HNF1A, GLI2, LYZ, AIP, BMPR1B, NR5A1, TGFB1, NONO, ATM, GATA4, KMT2D, NSD1, BLM, IL6, CDKN1B, PSMC3IP, MEF2A, HRAS, MAPK8IP1, NR3C1, ESR1, PIK3R1, SHH

nucleotide binding8.61829e-091.75198

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 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, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, MULTIPLE ENDOCRINE NEOPLASIA 1, XERODERMA PIGMENTOSUM, GROUP B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GLUCOCORTICOID DEFICIENCY 4, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

188

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, SEMA3E, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, BSND, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, HADH, KIF7, KIF1B, WT1, ITCH, H6PD, FANCM, NBN, ABCD1, BMP4, CDC73, POR, IRS1, SALL1, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, XRCC4, SOX2, NFKB2, APOA1, GLI2, SCNN1G, CLCNKA, AR, WRN, GNAS, THRA, ERCC3, KCNJ1, FGFR1, BLK, AVP, HMGA1, POLG, LEP, LMNA, LHX3, NNT, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, CLCNKB, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, NRAS, OAS1, SDHD, NEUROD1, STAT1, KRAS, IARS2, CTDP1, NIN, SOX9, VHL, SMARCAL1, HNF4A, BMP2, BRCA1, SEMA3A, VDR, TSC2, PAPSS2, HTR1A, TP53, IRS2, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, IGF2BP2, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, SARS2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, CISD2, DNAJC3, GNRH1, PDX1, POLR3B, STX16, PPP1R15B, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

transferase activity3.06844e-081.87178

{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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, 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, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, GLUTARIC ACIDURIA III, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, FUHRMANN SYNDROME, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 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, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BAMFORTH-LAZARUS SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, TENORIO SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HAMAMY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, GLYCEROL KINASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CORNELIA DE LANGE SYNDROME 5, 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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHAAF-YANG SYNDROME, BARDET-BIEDL SYNDROME 6, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

179

GATA1, DYRK1B, USP8, CAV1, IRX5, TSC2, CNBP, MTNR1B, MAPK8IP1, AP2S1, ALDOA, PPARG, TRMT10A, MARS, PRKAR1A, HARS2, RECQL4, GJA1, BTK, B2M, STK11, AKT2, HADH, FMR1, ITCH, FANCA, PNPLA2, FANCM, NBN, BMP4, CDC73, IRS1, NRAS, GATA3, GNAI2, THRB, PEX5, SUGCT, GCM2, CHD7, XRCC4, RSPO1, NFKB2, APOA1, GLI2, SCNN1G, NKX2-5, CDKAL1, AR, WRN, AGPAT2, THRA, ERCC3, HS6ST1, FGFR1, BLK, HMGA1, LEP, LMNA, LHX3, IFNG, GK, CCND1, PTH, NR0B1, ICK, NKX2-1, WNT3, MEN1, IL6, GLUD1, MKKS, CUL7, MAX, PTPN1, PAPSS2, TP63, DUSP6, FOXE1, INS, LRP6, GCK, PLIN1, PTCH1, TTR, DDX3X, SHH, RBM28, IL2RA, WNT7A, OAS1, SETD2, SDHD, UBR1, NEUROD1, STAT1, KRAS, CASR, CTDP1, PITX2, SOX9, VHL, KIF1B, HNF4A, BMP2, FOXP3, BRCA1, NDN, DNAJC3, SEMA3A, VDR, NDUFS1, TP53, POLG, HMBS, GPD2, LHX4, POLD1, EIF2B2, MAGEL2, CDKN1C, TSHR, PTEN, ITPR3, POLG2, TSC1, STAT3, B4GALNT1, POLR3B, AIP, SERPINC1, CUL4B, HSD17B4, EIF2B1, POLR3A, HDAC8, STUB1, BMPR1B, EIF2B5, NR5A1, TGFB1, IGF2, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, NSD1, SPRY4, PRLR, PRKACA, INSR, SLC2A4, EIF2B3, LIPE, BLM, SEC23B, CBX2, SARS2, CDKN1B, GMPPA, ZMPSTE24, STRADA, TRH, RET, MEF2A, HRAS, IRS2, RNF125, GNRH1, CYC1, STX16, NR3C1, ESR1, PDX1, C10orf2, PRDM5, AVP, PIK3R1

sterol binding0.003151017.6816

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ESTROGEN RESISTANCE, {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, PREMATURE OVARIAN FAILURE 7, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, LIPOID ADRENAL HYPERPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 46XY SEX REVERSAL 3, HYPERPROINSULINEMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM

12

STAR, PTCH1, CAV1, IL6, APOA1, NR0B1, PPARG, LEP, ESR1, INS, NR5A1, TP53

transcription regulatory region DNA binding2.43609e-243.75113

{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, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PREMATURE OVARIAN FAILURE 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, 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, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

105

FEZF1, PLAGL1, SALL1, TBX19, CYP11B2, TBX3, PPARG, OTX2, FOXI1, HARS2, TAF4B, AKT2, WT1, ITCH, BCOR, NEUROG3, BMP4, CDC73, IRS1, CNBP, POU1F1, GATA3, THRB, PTEN, PTCH1, SOX9, CHD7, SOX2, GLI2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, SOX3, HMGA1, LHX3, STAR, CCND1, PTH, IFNG, ICK, NKX2-1, GLIS3, MEN1, GDNF, MAX, TP63, TBX1, INS, NOBOX, PAX8, GATA1, SHH, HNF1B, ARX, NEUROD1, STAT1, PITX2, HNF4A, BMP2, FOXP3, BRCA1, VDR, TP53, GLI3, POLD1, CDKN1C, HNF1A, NONO, GH1, PAX4, BTK, AIRE, HESX1, HDAC8, STUB1, NR3C1, NR5A1, TGFB1, PTRF, ATM, GATA4, KMT2D, RFX6, NSD1, STAT3, CBX2, PIK3R1, CDKN1B, FOXD3, GATA6, TRH, RET, MEF2A, IRS2, STX16, BMPR1B, ESR1, SIX3, PRDM5, PDX1

insulin-like growth factor receptor binding0.0002110689.4620

SHORT SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESTROGEN RESISTANCE, {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, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, PSEUDOHYPOPARATHYROIDISM IC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEPRECHAUNISM, HYPERPROINSULINEMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL

8

LHCGR, IRS1, INSR, ESR1, INS, IGF2, GNAS, PIK3R1

insulin receptor binding0.0001567438.0716

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 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}, RABSON-MENDENHALL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEPRECHAUNISM, HYPERPROINSULINEMIA, LEOPARD SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

12

IRS2, PTPN1, ENPP1, IRS1, INSR, NR3C1, LEP, PIK3R1, RET, INS, IGF2, PTPN11

regulatory region nucleic acid binding1.42447e-243.73114

{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, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PREMATURE OVARIAN FAILURE 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, 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, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

106

FEZF1, PLAGL1, SALL1, TBX19, CYP11B2, TBX3, PPARG, OTX2, FOXI1, HARS2, TAF4B, AKT2, WT1, ITCH, BCOR, NEUROG3, BMP4, CDC73, IRS1, CNBP, POU1F1, GATA3, THRB, PTEN, PTCH1, SOX9, CHD7, SOX2, GLI2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, SOX3, HMGA1, LHX3, STAR, CCND1, PTH, IFNG, ICK, NKX2-1, GLIS3, MEN1, GDNF, MAX, TP63, TBX1, INS, NOBOX, PAX8, GATA1, SHH, HNF1B, ARX, NEUROD1, STAT1, PITX2, HNF4A, BMP2, FOXP3, BRCA1, VDR, TP53, GLI3, POLD1, CDKN1C, HNF1A, NONO, GH1, PAX4, BTK, AIRE, HESX1, HDAC8, STUB1, NR3C1, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA4, KMT2D, RFX6, NSD1, STAT3, CBX2, PIK3R1, CDKN1B, FOXD3, GATA6, TRH, RET, MEF2A, IRS2, STX16, BMPR1B, ESR1, SIX3, PRDM5, PDX1

protein kinase binding1.37723e-083.7981

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, CAMURATI-ENGELMANN DISEASE, CARNEY COMPLEX, TYPE 1, KOWARSKI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ULNAR-MAMMARY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, 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}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, {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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, TUBEROUS SCLEROSIS 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ADRENAL CORTICAL CARCINOMA, KENNY-CAFFEY SYNDROME, TYPE 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FRAGILE X TREMOR/ATAXIA SYNDROME, WOLCOTT-RALLISON SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, WERNER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {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, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PITUITARY ADENOMA, ACTH-SECRETING, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ATAXIA-TELANGIECTASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

73

GATA1, SOX9, CAV1, PPARG, SOX2, TP53, TSC2, STUB1, SALL1, TBCE, AR, WRN, TGFB1, MEF2A, GHR, ATM, AP2S1, ERCC3, TBX3, CTDP1, LIPE, STAT1, APPL1, GLUD1, USP9X, CDKN1B, FOXP3, BMP4, BRCA1, PROK2, PRKAR1A, PITX2, FMR1, BLM, VDR, ESR1, GJA1, STK11, SEC23B, CCND1, DUSP6, STAR, IRS2, ICK, CACNA1S, PTRF, NKX2-1, TRH, PTPN11, EIF2AK3, MAPK8IP1, TCF7L2, PTEN, HRAS, GATA6, ITCH, CASR, PTPN1, PRKACA, NR0B1, CYC1, GH1, NR3C1, BTK, TSC1, GATA3, GCGR, GNAI2, INS, STAT3, LRP6, IRS1, PIK3R1

kinase binding8.07075e-093.6485

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, CARNEY COMPLEX, TYPE 1, KOWARSKI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, 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}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, {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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FRAGILE X TREMOR/ATAXIA SYNDROME, TUBEROUS SCLEROSIS 2, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, WERNER SYNDROME, WOLCOTT-RALLISON SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, COWDEN SYNDROME 7, PITUITARY ADENOMA, ACTH-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TUBEROUS SCLEROSIS-1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ATAXIA-TELANGIECTASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

79

GATA1, SOX9, CAV1, PPARG, SOX2, TP53, TSC2, STUB1, SALL1, NR3C1, AR, WRN, TGFB1, MEF2A, TCF7L2, ATM, AP2S1, ERCC3, TBX3, DUSP6, CTDP1, GCGR, LIPE, APPL1, TSC1, USP9X, CDKN1B, CASR, FOXP3, PTPN11, BRCA1, PROK2, PRKAR1A, KRAS, PITX2, FMR1, BLM, VDR, ESR1, GJA1, STK11, SEC23B, CCND1, TBCE, PTH, STAR, STAT1, ICK, CACNA1S, PTRF, NKX2-1, TRH, MEN1, MAPK8IP1, PTEN, HRAS, GATA6, MAX, ITCH, BMP4, EIF2AK3, PTPN1, PRKACA, NR0B1, CYC1, GH1, STRADA, PTPN22, BTK, IRS2, GLUD1, GATA3, GHR, GNAI2, INS, STAT3, LRP6, IRS1, PIK3R1

protein domain specific binding8.13476e-083.2107

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}, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, 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, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, {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, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, 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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPERPARATHYROIDISM, NEONATAL, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIDDLE SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, 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, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

94

PDE4D, CAV1, KISS1, SALL1, GNAS, GLI3, NRXN1, OTX2, PRKAR1A, ERCC8, BTK, B2M, STK11, WT1, BMP4, USP8, GATA3, GNAI2, GLI2, SOX9, CHD7, KRAS, HTR1A, SCNN1G, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, HMGA1, LHX3, FSHR, CCND1, PTH, NR0B1, ICK, GDNF, MAX, PTPN1, TP63, TBX1, INS, LRP6, GATA1, GJA1, SCNN1B, STAT1, CASR, PITX2, HNF4A, BMP2, BRCA1, SOX2, AIP, TP53, LHX4, EIF2B2, ITCH, TSHR, PEX5, PTPN22, STAT3, AIRE, IRS1, SEMA3A, STUB1, NR3C1, WNT3, TGFB1, PTPN11, ATM, GATA4, GCGR, DICER1, GLUD1, PRKACA, CACNA1C, INSR, IL6, PIK3R1, CDKN1B, GATA6, RET, MEF2A, PTEN, HRAS, IRS2, WNT4, MAPK8IP1, BMPR1B, ESR1, SHH, PDX1

purine nucleotide binding7.90647e-101.99183

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, BARTTER SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

174

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, BSND, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, CLCNKA, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, CLCNKB, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, NRAS, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, SOX9, VHL, SMARCAL1, BMP2, BRCA1, SEMA3A, VDR, TSC2, PAPSS2, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, SARS2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, DNAJC3, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

steroid binding7.98462e-086.2833

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}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HARTSFIELD SYNDROME, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PREMATURE OVARIAN FAILURE 7, MENTAL RETARDATION, X-LINKED 102, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, HOLOPROSENCEPHALY-7, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, 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}, PITUITARY ADENOMA, ACTH-SECRETING, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

27

PTCH1, FGA, DDX3X, PPARG, IRX5, APOA1, AR, NR5A1, AKR1C2, CAV1, FGFR1, ESR1, CDKN1B, LEP, STAR, VDR, IL6, NR0B1, GLI3, TP53, HNF1A, IFNG, CYP21A2, NR3C1, STAT3, GNAI2, INS

protein serine/threonine kinase inhibitor activity0.02254378.639

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, IMAGE SYNDROME, CARNEY COMPLEX, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A

6

CDKN1C, CDKN1B, PRKACA, PRKAR1A, BRCA1, HRAS

cell adhesion molecule binding0.01041485.334

{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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, FUHRMANN SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

27

WNT7A, RET, CAV1, TGFB1, PTPN11, NRXN1, IL6, CASR, PITX2, LEP, INSR, IFNG, FGA, B2M, CCND1, PTH, TP53, MEN1, TNXB, ITPR3, NR3C1, STAT3, PIK3R1, LYZ, INS, NFKB2, SHH

protein kinase activator activity0.00138077.1315

MICROPHTHALMIA, SYNDROMIC 6, [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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CAMURATI-ENGELMANN DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PEUTZ-JEGHERS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS

15

BMP4, TTR, IL6, CCND1, IRS1, BMP2, GATA4, STRADA, STAT3, STK11, IGF2, TGFB1, PTEN, SHH, GATA6

methionine-tRNA ligase activity0.019885612.572

INTERSTITIAL LUNG AND LIVER DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25

2

MARS, MARS2

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides0.007883613.2593

{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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED 102, KENNY-CAFFEY SYNDROME, TYPE 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, PERRAULT SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PREMATURE OVARIAN FAILURE 9, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 4, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, PLEUROPULMONARY BLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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

76

PEX5, TSC2, HSD17B4, CAV1, APPL1, KRAS, APOA1, LMNA, HNF1B, CNBP, PTEN, NR3C1, EIF2B1, AR, WRN, TGFB1, NONO, ENTPD1, INSR, ATM, AP2S1, ERCC3, CHD7, CASR, ENPP1, HFM1, GNA11, MCM9, TBCE, SMARCAL1, PRKAR1A, ABCD1, HARS2, RECQL4, BMP2, FMR1, BLM, ESR1, GJA1, MCM4, C10orf2, CCND1, RAB23, CDKN1B, KIF1B, DICER1, STAT1, GNAS, FANCM, IL6, GLUD1, LHX4, TP53, EIF2B2, HRAS, B2M, IRS2, ATP7B, FANCA, DNAJC3, IFNG, PEX1, POLR3B, STX16, BMPR1B, GNRH1, STAT3, KIF7, MCM8, GNAI2, INS, ABCC8, DDX3X, IRS1, PIK3R1, PCNT

oxidoreductase activity, acting on CH-OH group of donors0.001373016.0122

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}, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COCKAYNE SYNDROME, TYPE A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLUCOCORTICOID RESISTANCE, ADRENAL CORTICAL CARCINOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ESTROGEN RESISTANCE, CORTISONE REDUCTASE DEFICIENCY 1, CHILD SYNDROME, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

22

EIF2B2, HSD17B4, TGFB1, AKR1C2, HADH, PRKACA, BMP2, AKR1C4, ERCC8, CCND1, TP53, HSD17B3, GPD2, NSDHL, HSD3B2, CYC1, H6PD, NR3C1, HSD11B1, ESR1, MSMO1, SHH

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor0.007767986.219

D-BIFUNCTIONAL PROTEIN DEFICIENCY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PERRAULT SYNDROME 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CORTISONE REDUCTASE DEFICIENCY 2, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, COCKAYNE SYNDROME, TYPE A, GLUCOCORTICOID RESISTANCE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADRENAL CORTICAL CARCINOMA, CORTISONE REDUCTASE DEFICIENCY 1, CHILD SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

19

HSD11B1, EIF2B2, H6PD, AKR1C2, HADH, AKR1C4, TP53, ESR1, NR3C1, HSD17B3, CYC1, BMP2, ERCC8, PRKACA, HSD17B4, NSDHL, TGFB1, MSMO1, HSD3B2

carbohydrate derivative binding9.11941e-111.76207

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 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, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OVARIAN DYSGENESIS 4, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PERRAULT SYNDROME 5, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PREMATURE OVARIAN FAILURE 9, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 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, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PSEUDOHYPOPARATHYROIDISM IA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

200

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, TBX3, ENPP1, PPARG, PDE11A, MARS, SOX2, OTX2, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, LHCGR, AKT2, KIF7, KIF1B, WT1, ITCH, FANCA, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, POR, TNXB, SALL1, NRAS, GNAI2, THRB, PTEN, PTCH1, WNT7A, HSD17B4, GP1BA, CHD7, RSPO1, NFKB2, APOA1, GLI2, SCNN1G, AR, IGF2, ANOS1, THRA, ERCC3, HS6ST1, FSHB, FGFR1, BLK, HMGA1, PTH, LEP, LHX3, CDKN1B, KCNJ1, GK, AARS2, CCND1, CEL, IFNG, ICK, NKX2-1, GLIS3, MEN1, IL6, GLUD1, MKKS, GLI3, CUL7, IRS1, CASR, PTPN1, LARS2, LIPC, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SERPINC1, OAS1, GDNF, NEUROD1, STAT1, KRAS, IARS2, CTDP1, NIN, SOX9, VHL, SMARCAL1, BMP2, FOXP3, HRAS, BRCA1, SEMA3A, VDR, TSC2, PAPSS2, HTR1A, TANGO2, IRS2, LIPE, FOXL2, FMR1, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, TSHR, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, IGF2BP2, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, STK11, PTRF, TGFB1, WRN, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, ESR1, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, TP53, BLM, ALDOA, CBX2, SARS2, STAR, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HSD3B2, POLG, DNAJC3, GNRH1, PDX1, POLR3B, STX16, NR3C1, PRLR, SHH, C10orf2, PEX5, PIK3R1, DICER1

adenyl nucleotide binding1.71002e-112.22174

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, BLOOM SYNDROME, OVARIAN DYSGENESIS 4, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, BARTTER SYNDROME, TYPE 4B, DIGENIC, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, BARTTER SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

161

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, SARS2, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, BSND, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, GNAI2, THRB, PEX5, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, CLCNKA, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, CDKN1B, GK, AARS2, CCND1, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, CLCNKB, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, PITX2, VHL, SMARCAL1, BMP2, BRCA1, SEMA3A, VDR, NDUFS1, PAPSS2, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, PTEN, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, EIF2B5, POLR3A, MCM9, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, FMR1, BLM, CBX2, PIK3R1, MARS, GATA4, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, DNAJC3, GNRH1, POLR3B, NR3C1, ESR1, PDX1, C10orf2, DICER1, SHH

hydrolase activity, acting on acid anhydrides0.009022883.2493

{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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED 102, KENNY-CAFFEY SYNDROME, TYPE 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, PERRAULT SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PREMATURE OVARIAN FAILURE 9, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 4, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, PLEUROPULMONARY BLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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

76

PEX5, TSC2, HSD17B4, CAV1, APPL1, KRAS, APOA1, LMNA, HNF1B, CNBP, PTEN, NR3C1, EIF2B1, AR, WRN, TGFB1, NONO, ENTPD1, INSR, ATM, AP2S1, ERCC3, CHD7, CASR, ENPP1, HFM1, GNA11, MCM9, TBCE, SMARCAL1, PRKAR1A, ABCD1, HARS2, RECQL4, BMP2, FMR1, BLM, ESR1, GJA1, MCM4, C10orf2, CCND1, RAB23, CDKN1B, KIF1B, DICER1, STAT1, GNAS, FANCM, IL6, GLUD1, LHX4, TP53, EIF2B2, HRAS, B2M, IRS2, ATP7B, FANCA, DNAJC3, IFNG, PEX1, POLR3B, STX16, BMPR1B, GNRH1, STAT3, KIF7, MCM8, GNAI2, INS, ABCC8, DDX3X, IRS1, PIK3R1, PCNT

ATP binding8.16088e-112.25169

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, BLOOM SYNDROME, OVARIAN DYSGENESIS 4, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

156

GATA1, DYRK1B, MARS2, CAV1, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, GNAI2, THRB, PEX5, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, CDKN1B, GK, AARS2, CCND1, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, PITX2, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, NDUFS1, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, PTEN, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, EIF2B1, POLR3A, MCM9, STUB1, BMPR1B, EIF2B5, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, FMR1, BLM, CBX2, PIK3R1, MARS, GATA4, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, POLR3B, NR3C1, ESR1, PDX1, C10orf2, DICER1, SHH

3'-5' DNA helicase activity0.0014724210.995

BLOOM SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, WERNER SYNDROME, ROTHMUND-THOMSON SYNDROME, ADRENAL CORTICAL CARCINOMA

5

WRN, RECQL4, ERCC3, TP53, BLM

lipase activity0.01439686.2622

{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}, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERPROINSULINEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OLIVER-MCFARLANE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, BOUCHER-NEUHAUSER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PITUITARY ADENOMA, ACTH-SECRETING, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

17

ATM, PNPLA2, IL6, CASR, LEP, CEL, PNPLA6, GJA1, TP53, LIPC, GNRH1, STAT3, PTPN11, GNAI2, INS, LIPE, HRAS

zinc ion binding3.93622e-082.36152

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, 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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, 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, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, BARDET-BIEDL SYNDROME 6, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 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, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MULTIPLE ENDOCRINE NEOPLASIA 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PRECOCIOUS PUBERTY, CENTRAL, 2, 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, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, BORJESON-FORSSMAN-LEHMANN SYNDROME, ACROMELIC FRONTONASAL DYSOSTOSIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, TENORIO SYNDROME, CULLER-JONES SYNDROME, LUSCAN-LUMISH 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HYPERTHYROIDISM, NONAUTOIMMUNE, HOLOPROSENCEPHALY-7, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PLEUROPULMONARY BLASTOMA, 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, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

143

FSHB, USP8, CAV1, KISS1, CNBP, MTNR1B, GLI3, KCNJ11, ENPP1, PPARG, OTX2, EIF2B2, BTK, FGA, B2M, STK11, HADH, WT1, SIX3, BCOR, FANCA, BMP4, CDC73, IRS1, SALL1, POU1F1, GATA3, AARS2, THRB, PTEN, PTCH1, WNT7A, RSPO1, APOA1, GLI2, NKX2-5, AR, MPI, WRN, RNF216, THRA, ERCC3, IL6, GDNF, CACNA1D, FGFR1, NSD1, HMGA1, LEP, SNRPN, LHX3, CDKN1B, CCND1, PTH, IFNG, SLC30A8, ICK, MEN1, MKKS, MKRN3, MAX, TSHR, STAT3, SEC23B, INS, LRP6, PITX2, PAX8, GATA1, DIS3L2, TTR, DDX3X, GJA1, IL2RA, SOX9, OAS1, SETD2, SDHD, ARX, UBR1, NEUROD1, TSHB, STAT1, CASR, NFKB2, VHL, HNF4A, BMP2, BRCA1, DNAJC3, SOX2, VDR, NDUFS1, TP53, LHX4, RECQL4, MCM4, CDKN1C, PTPN1, NONO, XRCC4, ITCH, AIRE, CUL4B, POLR3A, HDAC8, STUB1, BMPR1B, NR5A1, TGFB1, PHF6, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, DICER1, GLUD1, PRKACA, CACNA1C, INSR, TCF7L2, SLC2A4, TANGO2, BLM, ALDOA, C10orf2, CBX2, STAR, GATA6, RNF113A, MEF2A, HRAS, RNF125, GNRH1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, ZSWIM6, PEX5, SHH

cytokine receptor binding3.45658e-074.8344

{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}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPOID ADRENAL HYPERPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

46

SOX9, CAV1, KRAS, GJA1, TP53, GNRH1, RETN, TGFB1, GHR, ATM, STAT1, IL6, CASR, PITX2, PPARG, BMP2, HMGA1, LEP, FOXP3, BMP4, STAR, BTK, FGA, ESR1, B2M, CCND1, PTH, CDKN1B, GATA4, RNF216, PTPN11, HRAS, ITCH, PTPN1, IFNG, IRS1, GH1, BMPR1B, IRS2, STAT3, GATA3, SHH, GNAI2, LRP6, PTEN, PIK3R1

hormone activity1.04435e-176.2748

PREMATURE OVARIAN FAILURE 7, [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}, IMAGE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

38

FSHB, TTR, APOA1, RETN, NR3C1, MTNR1B, NR5A1, TGFB1, IGF2, STAT1, LEP, AVP, TG, INSR, BMP4, TP53, ESR1, FSHR, LHCGR, IL6, PTH, LHB, CDKN1B, GATA4, NKX2-1, TRH, POU1F1, RET, HRAS, CDKN1C, TSHB, TSHR, GNRH1, PTEN, GH1, HAMP, STAT3, INS

cytokine activity2.43519e-054.9544

{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, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FUHRMANN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, 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, {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, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

40

GATA1, WNT7A, GNA11, APOA1, B2M, BMPR1B, AR, TGFB1, PTPN11, ATM, STAT1, IL6, CASR, NFKB2, PPARG, BMP2, HMGA1, LEP, FOXP3, BMP4, IFNG, ESR1, FSHR, CCND1, PTH, CDKN1B, IRS2, GLI3, TP53, TCF7L2, CDKN1C, GNRH1, PTEN, HAMP, STAT3, SHH, INS, LRP6, PITX2, PIK3R1

RNA polymerase II regulatory region DNA binding9.31937e-204.4382

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, CULLER-JONES SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, DIGEORGE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ULNAR-MAMMARY SYNDROME, PREMATURE OVARIAN FAILURE 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ATAXIA-TELANGIECTASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMAGE SYNDROME

75

GATA1, SOX9, MEF2A, MEN1, SHH, SOX2, TP53, HESX1, STUB1, NKX2-5, OTX2, HAMP, AR, IGF2, TGFB1, GLI3, TCF7L2, NEUROD1, ATM, STAT1, CYP11B2, IL6, TBX3, GDNF, TBX19, PITX2, PPARG, POU1F1, SOX3, NSD1, HMGA1, BMP2, BMP4, LHX3, NR3C1, CDKN1B, VDR, ESR1, GLI2, BRCA1, CCND1, THRA, FEZF1, STAR, NONO, FOXD3, CDKN1C, GATA4, PAX4, NKX2-1, HNF4A, GLIS3, PLAGL1, RET, NR5A1, ARX, NEUROG3, GATA6, MAX, ITCH, SIX3, IFNG, IRS1, AKT2, GH1, CNBP, BMPR1B, STAT3, GATA3, PDX1, TBX1, INS, NOBOX, PTEN, PAX8

core promoter proximal region DNA binding2.12368e-155.1262

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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}, 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, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, 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, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, DIGEORGE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ULNAR-MAMMARY SYNDROME, PREMATURE OVARIAN FAILURE 5, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ATAXIA-TELANGIECTASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

52

GATA1, SOX9, MEN1, SOX2, NKX2-5, NR3C1, AR, IGF2, TGFB1, GLI3, TCF7L2, ATM, STAT1, TBX3, GDNF, TBX19, PITX2, PPARG, ESR1, SOX3, NSD1, OTX2, BMP4, LHX3, NEUROD1, BRCA1, CCND1, TP53, FEZF1, GATA4, NKX2-1, HNF4A, GLIS3, RET, NR5A1, MEF2A, NEUROG3, MAX, SIX3, CNBP, PDX1, NONO, SALL1, BMPR1B, STAT3, GATA3, SHH, TBX1, INS, NOBOX, PTEN, PAX8

enhancer sequence-specific DNA binding6.9527e-086.7626

{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, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, 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, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESTROGEN RESISTANCE, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

22

GATA1, SOX9, NKX2-5, TBX19, ARX, TCF7L2, MEF2A, GATA4, PPARG, STAT3, BRCA1, CCND1, TP53, BMP4, NKX2-1, RET, GDNF, SIX3, PAX4, ESR1, GATA3, INS

DNA binding6.12102e-161.88211

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, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL 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}, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PANCREATIC AND CEREBELLAR AGENESIS, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BAMFORTH-LAZARUS SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, 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, PERLMAN SYNDROME, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, BORJESON-FORSSMAN-LEHMANN SYNDROME, {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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, BLOOM SYNDROME, LIDDLE SYNDROME, OVARIAN DYSGENESIS 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PLEUROPULMONARY BLASTOMA, PANCREATIC AGENESIS 2, 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, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, OVARIAN DYSGENESIS 4, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PITUITARY DEPENDENT HYPERCORTISOLISM, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

201

FSHB, FANCM, CAV1, IRX5, TSC2, PLAGL1, CNBP, MTNR1B, GNAS, TBX19, LHX4, AP2S1, CYP11B2, ALDOA, TBX3, PPARG, MARS, SOX2, OTX2, FOXI1, HARS2, ERCC8, PROP1, RBM28, TAF4B, B2M, LHCGR, AKT2, ZBTB20, FMR1, WT1, SIX3, BCOR, FANCA, NDUFB11, KISS1, MARS2, NBN, NEUROG3, BMP4, CDC73, RFX6, SALL1, POU1F1, GATA3, GNAI2, THRB, GLI2, ARNT2, PTCH1, MCM8, GCM2, EIF2B2, CHD7, GH1, RSPO1, APOA1, FSHR, SLC26A4, NKX2-5, HAMP, AR, WRN, TCF7L2, THRA, PTF1A, IL6, FGFR1, SOX3, NSD1, HMGA1, LEP, LMNA, LHX3, CDKN1B, GJA1, CCND1, PTH, NR0B1, ICK, AIP, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, TSHR, IFNG, TP63, DUSP6, FOXE1, INS, NOBOX, NFKB2, PAX8, GATA1, DIS3L2, TTR, PSMC3IP, DDX3X, SHH, SLC2A2, SHOC2, PHF6, SETD2, ARX, GHR, NEUROD1, STAT1, KRAS, CASR, CTDP1, PITX2, SOX9, VHL, SMARCAL1, HNF4A, BMP2, FOXP3, BRCA1, NDN, SEMA3A, VDR, NDUFS1, HDAC8, TP53, NONO, POLG, MT-ND1, SCNN1G, GLI3, POLD1, RECQL4, MCM4, CDKN1C, HNF1A, TSHB, PTEN, XRCC4, PAX4, POLG2, BTK, STAT3, ITCH, AIRE, PCSK1, HESX1, CUL4B, IRS1, IGF2BP2, ZFP57, POLR3A, MCM9, LHB, STUB1, HTR1A, BMPR1B, STK11, NR5A1, TGFB1, IGF2, PTPN11, ATM, GATA6, KMT2D, HNF1B, GCGR, DICER1, SPRY4, ESR1, PRKACA, INSR, FOXL2, BLM, TBX1, CBX2, FEZF1, STAR, FOXD3, GATA4, PTRF, MT-ND5, TRH, RET, ERCC3, MEF2A, HRAS, IRS2, WNT4, SARS2, GNRH1, POLR3B, STX16, NR3C1, PRLR, PDX1, C10orf2, PRDM5, PEX5, PIK3R1

nucleoside phosphate binding8.61829e-091.75198

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 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, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, MULTIPLE ENDOCRINE NEOPLASIA 1, XERODERMA PIGMENTOSUM, GROUP B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GLUCOCORTICOID DEFICIENCY 4, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

188

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, SEMA3E, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, BSND, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, HADH, KIF7, KIF1B, WT1, ITCH, H6PD, FANCM, NBN, ABCD1, BMP4, CDC73, POR, IRS1, SALL1, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, XRCC4, SOX2, NFKB2, APOA1, GLI2, SCNN1G, CLCNKA, AR, WRN, GNAS, THRA, ERCC3, KCNJ1, FGFR1, BLK, AVP, HMGA1, POLG, LEP, LMNA, LHX3, NNT, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, CLCNKB, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, NRAS, OAS1, SDHD, NEUROD1, STAT1, KRAS, IARS2, CTDP1, NIN, SOX9, VHL, SMARCAL1, HNF4A, BMP2, BRCA1, SEMA3A, VDR, TSC2, PAPSS2, HTR1A, TP53, IRS2, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, IGF2BP2, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, SARS2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, CISD2, DNAJC3, GNRH1, PDX1, POLR3B, STX16, PPP1R15B, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

G-protein coupled receptor activity0.009831723.7670

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], PANCREATIC AGENESIS 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BLOOM SYNDROME, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, {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, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CAMURATI-ENGELMANN DISEASE, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, 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}, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

60

GATA1, SOX9, TTR, MTNR1B, CAV1, PAX8, HTR1A, FSHR, STUB1, SALL1, EIF2B1, GP1BA, TGFB1, NR5A1, AKR1C2, NEUROD1, PDE4D, CCND1, GNRHR, LEP, GCGR, PPARG, GHSR, PEX5, BMP2, FOXP3, PTPN11, WNT7A, KISS1R, TP53, BLM, TAS2R38, B2M, LHCGR, IL6, PTH, FMR1, WT1, GNAS, NKX2-1, TRH, TACR3, GLI3, HRAS, BMP4, CASR, TSHR, ESR1, PDX1, IRS1, ITPR3, LIPC, PROKR2, STAT3, SHH, GNAI2, INS, LRP6, PTEN, PIK3R1

growth factor activity1.15539e-075.2842

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}, IMAGE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, AXENFELD-RIEGER SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

39

SOX9, FGFR1, SOX2, TP53, PAX4, IGF2, TGFB1, GATA4, IL6, BMPR1B, PITX2, PPARG, GHSR, LEP, FGF17, BMP2, GJA1, ESR1, FSHR, CCND1, PTH, IFNG, BMP4, PROK2, RET, GDNF, HRAS, CDKN1C, PTPN1, GNRH1, IRS1, GH1, HAMP, IRS2, STAT3, INS, LRP6, PTEN, SHH

transition metal ion binding3.47194e-142.15189

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, 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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, 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, CULLER-JONES SYNDROME, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, BARDET-BIEDL SYNDROME 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 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, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PRECOCIOUS PUBERTY, CENTRAL, 2, 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, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 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, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, TENORIO SYNDROME, PANCREATIC AGENESIS 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LUSCAN-LUMISH SYNDROME, TIMOTHY SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMAGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, RESTRICTIVE DERMOPATHY, LETHAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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, PERLMAN SYNDROME, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ACROMELIC FRONTONASAL DYSOSTOSIS, HYPERTHYROIDISM, NONAUTOIMMUNE, HOLOPROSENCEPHALY-7, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HEMOCHROMATOSIS, TYPE 4, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, 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

175

TSC2, USP8, CAV1, FSHB, KISS1, CNBP, MTNR1B, GNAS, MAPK8IP1, CACNA1C, ACP5, CYP11B2, KCNJ11, ENPP1, PPARG, CDKN1B, OTX2, RECQL4, TAF4B, FGA, B2M, STK11, HADH, WT1, SIX3, BCOR, FANCA, BMP4, CDC73, POR, IRS1, SALL1, CYC1, GHSR, GATA3, AARS2, THRB, PTEN, PTCH1, WNT7A, RSPO1, APOA1, GLI2, FOXL2, NKX2-5, AR, MPI, WRN, RNF216, THRA, ERCC3, KCNJ1, GDNF, CACNA1D, FGFR1, POU1F1, NSD1, HMGA1, LEP, LMNA, SNRPN, LHX3, MSMO1, NR0B1, NEUROD1, FSHR, CCND1, PTH, IFNG, SLC30A8, ICK, MEN1, IL6, MKKS, GLI3, MKRN3, MAX, PTPN1, CYP21A2, STAT3, SEC23B, INS, LRP6, NFKB2, PAX8, GATA1, CP, TTR, DDX3X, SHH, GJA1, IL2RA, SOX9, OAS1, SETD2, CYP11B1, SDHD, DIS3L2, ARX, UBR1, CYP27B1, TSHB, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, HSD3B2, BRCA1, NDN, SOX2, PCSK1, NDUFS1, TP53, LHX4, EIF2B2, MCM4, CDKN1C, ATP7B, TSHR, NONO, XRCC4, HAMP, BTK, ITCH, AIRE, VDR, SERPINC1, CUL4B, SLC40A1, POLR3A, HDAC8, STUB1, BMPR1B, NR5A1, TGFB1, PHF6, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, DICER1, GLUD1, PRKACA, FXN, INSR, TCF7L2, SLC2A4, RNF125, TANGO2, BLM, ALDOA, ZSWIM6, CBX2, SARS2, STAR, GATA6, TRH, RNF113A, MEF2A, HRAS, DNAJC3, GNRH1, POLR3B, STX16, NR3C1, ESR1, PDX1, C10orf2, CYP17A1, PEX5, PIK3R1

growth factor binding1.10039e-055.8746

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}, HYPERTHYROIDISM, NONAUTOIMMUNE, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 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, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LARON DWARFISM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

28

CAV1, VHL, IL2RA, AR, IGF2, TGFB1, GNAS, GHR, INSR, STAT1, CASR, FGFR1, BMP2, LEP, CEP57, ESR1, IL6, PTH, TP53, HRAS, BMP4, TSHR, IRS1, STAT3, INS, LRP6, PTEN, GCGR

transcription factor binding transcription factor activity4.26527e-123.55100

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, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PANHYPOPITUITARISM, X-LINKED, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, VELOCARDIOFACIAL SYNDROME, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, OVARIAN DYSGENESIS 3, 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, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

92

DYRK1B, SALL1, GLI3, TBX3, PPARG, OTX2, RECQL4, AKT2, FMR1, WT1, SIX3, BCOR, NEUROG3, BMP4, WNT4, POU1F1, GATA3, GNAI2, THRB, PTEN, SHOC2, CHD7, KRAS, HTR1A, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, FGFR1, SOX3, HMGA1, LHX3, CCND1, PTH, NR0B1, NKX2-1, GLIS3, MEN1, GDNF, MAX, TSHB, TP63, TBX1, INS, PITX2, PAX8, GATA1, DDX3X, GJA1, SOX9, NEUROD1, STAT1, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, SOX2, VDR, TP53, LHX4, ERCC8, ITCH, HNF1A, GLI2, LYZ, AIP, HESX1, BMPR1B, NR5A1, TGFB1, NONO, ATM, GATA4, KMT2D, NSD1, STAT3, CACNA1C, BLM, IL6, CDKN1B, PSMC3IP, MEF2A, HRAS, MAPK8IP1, NR3C1, ESR1, PIK3R1, SHH

protein binding transcription factor activity4.99685e-123.55100

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, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, PANHYPOPITUITARISM, X-LINKED, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, VELOCARDIOFACIAL SYNDROME, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, OVARIAN DYSGENESIS 3, 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, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

92

DYRK1B, SALL1, GLI3, TBX3, PPARG, OTX2, RECQL4, AKT2, FMR1, WT1, SIX3, BCOR, NEUROG3, BMP4, WNT4, POU1F1, GATA3, GNAI2, THRB, PTEN, SHOC2, CHD7, KRAS, HTR1A, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, FGFR1, SOX3, HMGA1, LHX3, CCND1, PTH, NR0B1, NKX2-1, GLIS3, MEN1, GDNF, MAX, TSHB, TP63, TBX1, INS, PITX2, PAX8, GATA1, DDX3X, GJA1, SOX9, NEUROD1, STAT1, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, SOX2, VDR, TP53, LHX4, ERCC8, ITCH, HNF1A, GLI2, LYZ, AIP, HESX1, BMPR1B, NR5A1, TGFB1, NONO, ATM, GATA4, KMT2D, NSD1, STAT3, CACNA1C, BLM, IL6, CDKN1B, PSMC3IP, MEF2A, HRAS, MAPK8IP1, NR3C1, ESR1, PIK3R1, SHH

core promoter proximal region sequence-specific DNA binding1.64211e-155.1362

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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}, 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, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, 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, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, DIGEORGE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ULNAR-MAMMARY SYNDROME, PREMATURE OVARIAN FAILURE 5, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ATAXIA-TELANGIECTASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

52

GATA1, SOX9, MEN1, SOX2, NKX2-5, NR3C1, AR, IGF2, TGFB1, GLI3, TCF7L2, ATM, STAT1, TBX3, GDNF, TBX19, PITX2, PPARG, ESR1, SOX3, NSD1, OTX2, BMP4, LHX3, NEUROD1, BRCA1, CCND1, TP53, FEZF1, GATA4, NKX2-1, HNF4A, GLIS3, RET, NR5A1, MEF2A, NEUROG3, MAX, SIX3, CNBP, PDX1, NONO, SALL1, BMPR1B, STAT3, GATA3, SHH, TBX1, INS, NOBOX, PTEN, PAX8

passive transmembrane transporter activity0.0004241034.1957

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, 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, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PEROXISOME BIOGENESIS DISORDER 2B, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, FRAGILE X TREMOR/ATAXIA SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LYMPHEDEMA, HEREDITARY, III, RENAL CYSTS AND DIABETES SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

49

TSC2, SDHD, CAV1, KRAS, APOA1, PDE4D, HNF1B, CLCNKA, KCNJ5, EIF2B1, SCNN1B, TGFB1, PTPN11, GATA4, KCNJ11, CASR, CACNA1D, PRKACA, CACNA1C, HRAS, KISS1R, IFNG, CCND1, B2M, KCNJ1, IL2RA, FMR1, PIEZO1, CACNA1S, NKX2-1, GLIS3, SCNN1G, IL6, TP53, BSND, GJA1, CDC73, PTPN1, TSHR, PTEN, ITPR3, CLCNKB, STAT3, GNAI2, INS, TRH, ABCC8, PEX5, PIK3R1

protein kinase activity1.60814e-053.4184

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA IIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LEPRECHAUNISM, LIDDLE SYNDROME, HYPERPROINSULINEMIA, 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, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MENTAL RETARDATION, X-LINKED 102, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CULLER-JONES SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PEUTZ-JEGHERS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TUBEROUS SCLEROSIS-1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HOLOPROSENCEPHALY-9, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, GLUCOCORTICOID RESISTANCE, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ATAXIA-TELANGIECTASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

78

GATA1, PLIN1, SOX9, MEF2A, IRS1, CAV1, PPARG, KRAS, IL2RA, TSC2, SCNN1G, NR3C1, AR, SEMA3A, IGF2, TGFB1, MAPK8IP1, PTPN11, ATM, AP2S1, ERCC3, DDX3X, EIF2AK3, CTDP1, NFKB2, SPRY4, TSC1, BLK, AVP, INSR, PRKAR1A, BMP4, LHX3, WNT7A, GATA4, BMP2, LIPE, BTK, VDR, NEUROD1, GJA1, BRCA1, STK11, GNAI2, CCND1, FGFR1, CDKN1B, STAT1, ICK, AKT2, PRLR, NKX2-1, RET, DYRK1B, IL6, LHX4, TP53, POLD1, PTEN, HRAS, ITCH, PTPN1, PRKACA, ESR1, POLR3B, STRADA, BMPR1B, IRS2, TP63, DUSP6, SHH, SEC23B, SLC2A4, INS, STAT3, LRP6, GLI2, PIK3R1

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity1.04471e-154.8566

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?CHARGE SYNDROME, CHARGE SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, {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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, PANCREATIC AGENESIS 2, 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, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PREMATURE OVARIAN FAILURE 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, PANCREATIC AND CEREBELLAR AGENESIS, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PREMATURE OVARIAN FAILURE 5, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, BECKWITH-WIEDEMANN SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

58

GATA1, SOX9, CHD7, SOX2, HTR1A, HNF1B, NKX2-5, NR3C1, AR, IGF2, TGFB1, NR5A1, TCF7L2, NEUROD1, GATA4, PTF1A, ZBTB20, TBX3, GDNF, TBX19, PITX2, PPARG, STAT3, SOX3, OTX2, LHX3, BMP2, TAF4B, VDR, ESR1, BRCA1, CCND1, TP53, WT1, BMP4, NKX2-1, HNF4A, GLIS3, POU1F1, MEN1, MEF2A, NBN, NEUROG3, MAX, SIX3, HNF1A, CNBP, PDX1, PTEN, SALL1, BMPR1B, TP63, GATA3, SHH, INS, NOBOX, NSD1, PAX8

sequence-specific DNA binding RNA polymerase II transcription factor activity3.82646e-234.01110

{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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, LARON DWARFISM, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, BAMFORTH-LAZARUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PREMATURE OVARIAN FAILURE 5, 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}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

94

PLAGL1, CNBP, GNAS, TBX19, CYP11B2, TBX3, PPARG, OTX2, BTK, LHCGR, ZBTB20, WT1, SIX3, NBN, NEUROG3, BMP4, IRS1, POU1F1, GATA3, GNAI2, THRB, GLI2, SOX9, CHD7, SOX2, HTR1A, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, SOX3, HMGA1, LHX3, STAR, CCND1, PTH, NR0B1, NKX2-1, GLIS3, MEN1, GDNF, MAX, TP63, TBX1, INS, NOBOX, PAX8, GATA1, HNF1B, ARX, GHR, NEUROD1, STAT1, CASR, PITX2, HNF4A, BMP2, FOXP3, BRCA1, AIP, TP53, CDKN1C, HNF1A, NONO, PAX4, TAF4B, VDR, HESX1, STUB1, STK11, NR5A1, TGFB1, PTPN11, ATM, GATA4, NSD1, STAT3, FOXE1, IL6, PIK3R1, CDKN1B, FOXD3, GATA6, RET, MEF2A, PTEN, HRAS, NR3C1, ESR1, PDX1, SHH

RNA polymerase II distal enhancer sequence-specific DNA binding0.0001015927.2319

ADRENAL CORTICAL CARCINOMA, 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ESTROGEN RESISTANCE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HOLOPROSENCEPHALY-2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

15

GDNF, SIX3, CCND1, NKX2-1, TP53, PPARG, NKX2-5, PAX4, GATA4, ESR1, RET, INS, ARX, MEF2A, TCF7L2

anion binding1.33702e-101.57223

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, 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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 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, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OVARIAN DYSGENESIS 4, 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, PERRAULT SYNDROME 5, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, 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, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BAMFORTH-LAZARUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CULLER-JONES SYNDROME, WOLFRAM SYNDROME 2, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

218

GATA1, DYRK1B, FANCM, CAV1, PDE4D, CNBP, MTNR1B, SEMA3E, TBX19, MAPK8IP1, FXN, AP2S1, KCNJ11, TBX3, ENPP1, PPARG, PDE11A, MARS, SOX2, PRKAR1A, AKR1C2, HARS2, EIF2B2, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, HADH, KIF7, KIF1B, WT1, ITCH, FANCA, PPP1R15B, MARS2, HNF1A, NBN, ABCD1, BMP4, CDC73, POR, TNXB, SALL1, NRAS, GNAI2, THRB, PTEN, PTCH1, WNT7A, HSD17B4, GP1BA, CHD7, RSPO1, NFKB2, APOA1, GLI2, SCNN1G, NKX2-5, AR, IGF2, ANOS1, GNAS, TCF7L2, THRA, ERCC3, HS6ST1, FSHB, GDNF, FGFR1, BLK, HMGA1, PTH, LEP, LMNA, LHX3, CDKN1B, KCNJ1, GK, AARS2, CCND1, CEL, IFNG, ICK, NKX2-1, GLIS3, MEN1, IL6, GLUD1, MKKS, GLI3, CASR, TSHR, LARS2, LIPC, TP63, DUSP6, FOXE1, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SERPINC1, OAS1, SETD2, USP9X, SDHD, IRS2, UBR1, NEUROD1, STAT1, KRAS, IARS2, CTDP1, NIN, SOX9, VHL, SMARCAL1, HNF4A, BMP2, FOXP3, HRAS, BRCA1, NDN, SEMA3A, VDR, TSC2, PAPSS2, HTR1A, TANGO2, POLG, GPD2, LIPE, FOXL2, FMR1, LHX4, POLD1, RECQL4, MCM4, CDKN1C, ATP7B, PTPN1, SIL1, NONO, ITPR3, TSC1, LYZ, STAT3, CYC1, AIP, PEX1, CUL4B, IRS1, EIF2B1, IGF2BP2, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B5, NR5A1, TGFB1, WRN, ENTPD1, ATM, GATA4, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, ESR1, PRKACA, CACNA1C, INSR, PTPN11, SLC2A4, PCNT, PITX2, TP53, BLM, ALDOA, SEC23B, CBX2, SARS2, STAR, GATA6, PTRF, RAB40AL, STRADA, RET, MEF2A, ABCC8, HSD3B2, CISD2, DNAJC3, GNRH1, PDX1, POLR3B, STX16, NR3C1, PRLR, PIK3R1, C10orf2, PEX5, SHH, DICER1

steroid hormone receptor binding0.0003473086.9319

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, XERODERMA PIGMENTOSUM, GROUP B, MICROPHTHALMIA, SYNDROMIC 6, ESTROGEN RESISTANCE, {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, 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PREMATURE OVARIAN FAILURE 7, ADRENAL CORTICAL CARCINOMA, GLUCOCORTICOID RESISTANCE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, BECKWITH-WIEDEMANN SYNDROME, 46XY SEX REVERSAL 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM

16

VDR, BMP4, ERCC3, AR, NR0B1, LHX4, PPARG, STAT3, STUB1, ESR1, NR3C1, BRCA1, NR5A1, TP53, NSD1, FOXL2

heme binding3.05713e-095.938

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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, THRYOID DYSHORMONOGENESIS 6, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, THYROID DYSHORMONOGENESIS 2A, LEOPARD SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

29

FGA, SDHD, IL2RA, AR, NR5A1, PTPN11, CYP27B1, GATA4, CYP11B2, CASR, LEP, HMGA1, BMP2, DUOX2, VDR, IL6, PTH, IFNG, INS, GLI3, CYP11B1, POR, GNRH1, CYC1, CYP21A2, ESR1, PIK3R1, CYP17A1, TPO

protein kinase regulator activity7.377e-125.7244

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, [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}, IMAGE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

37

TTR, GJA1, AR, IGF2, TGFB1, GDNF, ATM, STAT1, IL6, PITX2, STAT3, PRKACA, BMP2, PRKAR1A, BMP4, BRCA1, TP53, BTK, ESR1, STK11, CCND1, CDKN1B, GATA6, GATA4, STRADA, MAPK8IP1, HRAS, CDKN1C, CDC73, DNAJC3, IRS1, TP63, PIK3R1, GNAI2, INS, PTEN, SHH

kinase activity8.45572e-063.03101

{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, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, MODY, TYPE II, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

96

GATA1, DYRK1B, CAV1, TSC2, MTNR1B, LHX4, AP2S1, PPARG, PRKAR1A, BTK, STK11, AKT2, LIPE, BMP4, IRS1, GNAI2, THRB, GLI2, PTCH1, WNT7A, KRAS, SCNN1G, AR, IGF2, ERCC3, FGFR1, BLK, LEP, LHX3, GK, CCND1, PTH, IFNG, ICK, NKX2-1, GLUD1, FANCA, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, PLIN1, DDX3X, GJA1, IL2RA, SOX9, NEUROD1, STAT1, CTDP1, NFKB2, VHL, BMP2, BRCA1, VDR, TP53, MAPK8IP1, POLD1, ITCH, PTPN1, PTEN, XRCC4, TSC1, STAT3, CYC1, SEMA3A, STUB1, NR3C1, EIF2B1, TGFB1, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, AVP, SPRY4, ESR1, PRKACA, INSR, SLC2A4, FMR1, IL6, CDKN1B, STRADA, RET, MEF2A, HRAS, IRS2, POLR3B, BMPR1B, PRLR, PIK3R1, SHH

nuclear hormone receptor binding3.48161e-066.0434

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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {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, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, AXENFELD-RIEGER SYNDROME, TYPE 1, 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

26

VHL, FOXL2, AR, NR5A1, TCF7L2, THRA, ERCC3, PITX2, PPARG, STAT3, HMGA1, BRCA1, NR0B1, VDR, TP53, STUB1, LHX4, BMP4, HNF1A, PTEN, NR3C1, ESR1, INS, THRB, NSD1, PIK3R1

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor0.02656918.69

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CAMURATI-ENGELMANN DISEASE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, CHILD SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

8

HSD11B1, HSD17B3, HSD3B2, HSD17B4, MSMO1, TGFB1, NSDHL, AKR1C4

beta-catenin binding0.005486346.9816

TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, 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}, TIMOTHY SYNDROME, CULLER-JONES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PALLISTER-HALL SYNDROME, HOLOPROSENCEPHALY-9, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

13

THRA, SALL1, AR, PTPN1, PTEN, ESR1, CACNA1C, STAT3, SOX9, GLI3, PROP1, GLI2, TCF7L2

receptor agonist activity0.0009528679.212

MULLERIAN APLASIA AND HYPERANDROGENISM, MICROPHTHALMIA, SYNDROMIC 6, FUHRMANN SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SERKAL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME

8

BMP4, CASR, WNT4, OTX2, BMP2, WNT7A, WNT3, SHH

DNA binding, bending0.001625388.79

TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, PENDRED SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9

8

GATA1, BMP4, FOXI1, PITX2, BMP2, SALL1, SOX9, GLI2

hydrolase activity, acting on ester bonds1.43103e-063.21101

{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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, BOUCHER-NEUHAUSER SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LARON DWARFISM, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ROTHMUND-THOMSON SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RABSON-MENDENHALL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MODY, TYPE II, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CORTISONE REDUCTASE DEFICIENCY 1, OLIVER-MCFARLANE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, PERRAULT SYNDROME 5, CHILD SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PLEUROPULMONARY BLASTOMA, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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

90

PDE4D, CAV1, MTNR1B, GNAS, ACP5, ENPP1, PPARG, PDE11A, RECQL4, BTK, LIPE, H6PD, FANCM, CDC73, IRS1, GNAI2, PTEN, SOX2, APOA1, AR, WRN, HMGA1, PTH, LEP, FSHR, CCND1, CEL, ICK, LIPC, MEN1, CASR, FANCA, LARS2, STAT3, DUSP6, INS, GATA1, DIS3L2, TTR, MGME1, GJA1, HNF1B, NSDHL, GHR, NEUROD1, STAT1, IARS2, CTDP1, PNPLA6, GCK, USP9X, BMP2, BRCA1, NDN, VDR, NDUFS1, TP53, POLD1, KISS1R, ITCH, PTPN1, NONO, XRCC4, PTPN22, G6PC3, EIF2B5, POLR3A, BMPR1B, EIF2B1, TGFB1, PTPN11, ATM, DICER1, TP63, INSR, TANGO2, BLM, PNPLA2, IL6, STAR, HRAS, POLG, GNRH1, POLR3B, PPP1R15B, NR3C1, ESR1, GCGR, C10orf2, PIK3R1

RNA polymerase II transcription factor binding5.0619e-096.3432

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BARDET-BIEDL SYNDROME 6, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ADRENAL CORTICAL CARCINOMA, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

28

GATA1, STUB1, NKX2-5, AR, MEF2A, TCF7L2, NEUROD1, STAT1, TBX3, PITX2, PPARG, ESR1, HNF4A, BRCA1, LHX3, CCND1, TP53, GATA6, ICK, GATA4, MKKS, POLD1, BMP4, NONO, NR3C1, POU1F1, INS, STAT3

substrate-specific channel activity0.001739774.2851

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 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}, HYPERPARATHYROIDISM 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, 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, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, CAMURATI-ENGELMANN DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, FRAGILE X TREMOR/ATAXIA SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, RENAL CYSTS AND DIABETES SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

45

TSC2, CAV1, KRAS, APOA1, PDE4D, HNF1B, CLCNKA, KCNJ5, EIF2B1, SCNN1B, TGFB1, PTPN11, KCNJ11, CASR, CACNA1D, PRKACA, CACNA1C, HRAS, KISS1R, IFNG, CCND1, B2M, KCNJ1, FMR1, PIEZO1, CACNA1S, NKX2-1, GLIS3, SCNN1G, IL6, TP53, BSND, GJA1, CDC73, PTPN1, PTEN, ITPR3, CLCNKB, STAT3, GNAI2, INS, TRH, ABCC8, PEX5, PIK3R1

cytoskeletal protein binding0.003040183.08102

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, 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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 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}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IA, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, ALSTROM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, 3-M SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 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, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

86

TSC2, CAV1, IGSF1, DYRK1B, CNBP, GNAS, AP2S1, ALDOA, PPARG, CAPN10, PRKAR1A, EIF2B2, BTK, B2M, LHCGR, LIPE, IRS1, KIF7, GNAI2, CUL7, USP8, ALMS1, KRAS, NKX2-5, AR, CCND1, CACNA1D, FGFR1, LMNA, AKT2, GATA3, FSHR, HS6ST1, PTH, NR0B1, FMR1, THRB, FANCA, STAT3, INS, ABCC8, LRP6, PITX2, GATA1, KCNJ11, GJA1, STAT1, CASR, NIN, VHL, USP9X, KIF1B, BRCA1, NDN, SOX2, TP53, MAPK8IP1, ITCH, PTPN1, PEX5, ITPR3, NR3C1, PHF6, TGFB1, PTPN11, GATA4, GLUD1, PRKACA, CACNA1C, PCNT, CEP57, TANGO2, BLM, IL6, CDKN1B, GATA6, RET, PTEN, HRAS, IRS2, AGPAT2, BMPR1B, ESR1, PIK3R1, C10orf2, SHH

phosphotransferase activity, alcohol group as acceptor9.96132e-073.296

{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, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, MODY, TYPE II, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCEROL KINASE DEFICIENCY, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

90

GATA1, DYRK1B, CAV1, TSC2, MTNR1B, LHX4, AP2S1, PPARG, PRKAR1A, BTK, STK11, AKT2, LIPE, BMP4, IRS1, GNAI2, THRB, PTEN, WNT7A, KRAS, SCNN1G, AR, IGF2, ERCC3, FGFR1, BLK, LEP, LHX3, GK, CCND1, PTH, ICK, PRLR, PAPSS2, FANCA, NKX2-1, TP63, DUSP6, SEC23B, INS, LRP6, GCK, PLIN1, DDX3X, GJA1, IL2RA, SOX9, NEUROD1, STAT1, CTDP1, NFKB2, VHL, BMP2, BRCA1, VDR, TP53, MAPK8IP1, POLD1, ITCH, PTPN1, GLI2, XRCC4, STAT3, SEMA3A, NR3C1, EIF2B1, TGFB1, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, AVP, SPRY4, TSC1, PRKACA, INSR, SLC2A4, IL6, CDKN1B, STRADA, RET, MEF2A, HRAS, IRS2, POLR3B, BMPR1B, ESR1, PIK3R1, SHH

transferase activity, transferring phosphorus-containing groups1.06597e-072.79112

{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, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, 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, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCEROL KINASE DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FRAGILE X TREMOR/ATAXIA SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

112

GATA1, DYRK1B, CAV1, TSC2, MTNR1B, LHX4, AP2S1, TP63, PPARG, PRKAR1A, EIF2B2, RBM28, BTK, B2M, STK11, AKT2, LIPE, NBN, BMP4, IRS1, GNAI2, THRB, GLI2, PTCH1, WNT7A, XRCC4, KRAS, SCNN1G, AR, IGF2, ERCC3, FGFR1, BLK, LEP, LHX3, GK, CCND1, PTH, IFNG, ICK, PRLR, NKX2-1, FANCA, PAPSS2, GLUD1, DUSP6, SEC23B, INS, LRP6, NFKB2, PLIN1, TTR, DDX3X, GJA1, IL2RA, SOX9, OAS1, SETD2, NEUROD1, STAT1, CTDP1, GCK, VHL, KIF1B, BMP2, BRCA1, SEMA3A, VDR, TP53, IRS2, MAPK8IP1, POLD1, ITCH, PTPN1, PTEN, ITPR3, POLG2, STAT3, CYC1, EIF2B1, POLR3A, STUB1, BMPR1B, EIF2B5, TGFB1, WRN, PTPN11, ATM, GMPPA, KMT2D, EIF2AK3, AVP, SPRY4, TSC1, PRKACA, INSR, SLC2A4, EIF2B3, FMR1, IL6, CDKN1B, GATA4, STRADA, RET, MEF2A, HRAS, POLG, POLR3B, NR3C1, ESR1, PIK3R1, SHH

glycosaminoglycan binding4.62731e-124.9166

{HYPOGONADOTROPIC HYPOGONADISM 15 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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HARTSFIELD SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPOID ADRENAL HYPERPLASIA, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 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, HOLOPROSENCEPHALY-7, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, PLATELET-TYPE, 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, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

53

PTCH1, SOX9, AR, CAV1, FGFR1, RSPO1, APOA1, SERPINC1, FOXL2, GP1BA, IGF2, TGFB1, GNAS, PTPN11, ATM, STAT1, IL6, CASR, ANOS1, PITX2, PPARG, STAT3, HS6ST1, PTH, LEP, LHX3, EIF2B2, BMP2, CDKN1B, FGA, ESR1, B2M, BRCA1, CCND1, CEL, IL2RA, STAR, NKX2-1, RET, TP53, HRAS, BMP4, FANCA, TSHR, IFNG, TNXB, LIPC, GNRH1, TP63, INS, LRP6, PTEN, SHH

pyrophosphatase activity0.007153963.2593

{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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED 102, KENNY-CAFFEY SYNDROME, TYPE 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, PERRAULT SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PREMATURE OVARIAN FAILURE 9, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 4, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, PLEUROPULMONARY BLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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

76

PEX5, TSC2, HSD17B4, CAV1, APPL1, KRAS, APOA1, LMNA, HNF1B, CNBP, PTEN, NR3C1, EIF2B1, AR, WRN, TGFB1, NONO, ENTPD1, INSR, ATM, AP2S1, ERCC3, CHD7, CASR, ENPP1, HFM1, GNA11, MCM9, TBCE, SMARCAL1, PRKAR1A, ABCD1, HARS2, RECQL4, BMP2, FMR1, BLM, ESR1, GJA1, MCM4, C10orf2, CCND1, RAB23, CDKN1B, KIF1B, DICER1, STAT1, GNAS, FANCM, IL6, GLUD1, LHX4, TP53, EIF2B2, HRAS, B2M, IRS2, ATP7B, FANCA, DNAJC3, IFNG, PEX1, POLR3B, STX16, BMPR1B, GNRH1, STAT3, KIF7, MCM8, GNAI2, INS, ABCC8, DDX3X, IRS1, PIK3R1, PCNT

channel activity0.0004241034.1957

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, 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, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PEROXISOME BIOGENESIS DISORDER 2B, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, FRAGILE X TREMOR/ATAXIA SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LYMPHEDEMA, HEREDITARY, III, RENAL CYSTS AND DIABETES SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

49

TSC2, SDHD, CAV1, KRAS, APOA1, PDE4D, HNF1B, CLCNKA, KCNJ5, EIF2B1, SCNN1B, TGFB1, PTPN11, GATA4, KCNJ11, CASR, CACNA1D, PRKACA, CACNA1C, HRAS, KISS1R, IFNG, CCND1, B2M, KCNJ1, IL2RA, FMR1, PIEZO1, CACNA1S, NKX2-1, GLIS3, SCNN1G, IL6, TP53, BSND, GJA1, CDC73, PTPN1, TSHR, PTEN, ITPR3, CLCNKB, STAT3, GNAI2, INS, TRH, ABCC8, PEX5, PIK3R1

transcription regulatory region sequence-specific DNA binding6.60334e-224.2490

{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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, DIGEORGE SYNDROME, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, ATAXIA-TELANGIECTASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, PREMATURE OVARIAN FAILURE 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, 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, 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, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

84

GATA1, PTCH1, HESX1, MEF2A, MEN1, SHH, SOX2, TP53, SOX9, STUB1, NKX2-5, PTEN, HAMP, AR, IGF2, TGFB1, GLI3, PDX1, NEUROD1, ATM, STAT1, CYP11B2, CCND1, TBX3, GDNF, TBX19, CNBP, OTX2, PPARG, POU1F1, SOX3, NSD1, HMGA1, BMP2, FOXP3, BMP4, LHX3, NR3C1, PITX2, CDKN1B, VDR, ESR1, PAX4, BRCA1, CBX2, THRA, FEZF1, STAR, NONO, FOXD3, CDKN1C, GATA4, NKX2-1, HNF4A, GLIS3, PLAGL1, RET, IL6, NR5A1, ARX, TCF7L2, PTPN11, NEUROG3, GATA6, MAX, ITCH, SIX3, IFNG, PRDM5, IRS1, AKT2, GH1, SALL1, BMPR1B, IRS2, STAT3, GATA3, PIK3R1, TBX1, INS, TRH, NOBOX, GLI2, PAX8

RNA polymerase II regulatory region sequence-specific DNA binding6.94968e-204.4382

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, CULLER-JONES SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, DIGEORGE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ULNAR-MAMMARY SYNDROME, PREMATURE OVARIAN FAILURE 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ATAXIA-TELANGIECTASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMAGE SYNDROME

75

GATA1, SOX9, MEF2A, MEN1, SHH, SOX2, TP53, HESX1, STUB1, NKX2-5, OTX2, HAMP, AR, IGF2, TGFB1, GLI3, TCF7L2, NEUROD1, ATM, STAT1, CYP11B2, IL6, TBX3, GDNF, TBX19, PITX2, PPARG, POU1F1, SOX3, NSD1, HMGA1, BMP2, BMP4, LHX3, NR3C1, CDKN1B, VDR, ESR1, GLI2, BRCA1, CCND1, THRA, FEZF1, STAR, NONO, FOXD3, CDKN1C, GATA4, PAX4, NKX2-1, HNF4A, GLIS3, PLAGL1, RET, NR5A1, ARX, NEUROG3, GATA6, MAX, ITCH, SIX3, IFNG, IRS1, AKT2, GH1, CNBP, BMPR1B, STAT3, GATA3, PDX1, TBX1, INS, NOBOX, PTEN, PAX8

regulatory region DNA binding1.42447e-243.73114

{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, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, MITCHELL-RILEY SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PREMATURE OVARIAN FAILURE 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, 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, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

106

FEZF1, PLAGL1, SALL1, TBX19, CYP11B2, TBX3, PPARG, OTX2, FOXI1, HARS2, TAF4B, AKT2, WT1, ITCH, BCOR, NEUROG3, BMP4, CDC73, IRS1, CNBP, POU1F1, GATA3, THRB, PTEN, PTCH1, SOX9, CHD7, SOX2, GLI2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, SOX3, HMGA1, LHX3, STAR, CCND1, PTH, IFNG, ICK, NKX2-1, GLIS3, MEN1, GDNF, MAX, TP63, TBX1, INS, NOBOX, PAX8, GATA1, SHH, HNF1B, ARX, NEUROD1, STAT1, PITX2, HNF4A, BMP2, FOXP3, BRCA1, VDR, TP53, GLI3, POLD1, CDKN1C, HNF1A, NONO, GH1, PAX4, BTK, AIRE, HESX1, HDAC8, STUB1, NR3C1, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA4, KMT2D, RFX6, NSD1, STAT3, CBX2, PIK3R1, CDKN1B, FOXD3, GATA6, TRH, RET, MEF2A, IRS2, STX16, BMPR1B, ESR1, SIX3, PRDM5, PDX1

purine ribonucleotide binding3.26642e-092.0180

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

171

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, TSC2, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

protein dimerization activity2.13837e-142.46168

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, KOWARSKI SYNDROME, 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, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, FANCONI ANEMIA, COMPLEMENTATION GROUP E, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, ALSTROM SYNDROME, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, 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, BAMFORTH-LAZARUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WOLFRAM SYNDROME 2, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HOLOPROSENCEPHALY-9, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, DIGEORGE SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, CHILD SYNDROME, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, ?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, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

157

PDE4D, CAV1, APPL1, TSC2, KISS1, CNBP, GNAS, GLI3, FXN, NRXN1, FANCE, TBX3, ENPP1, PPARG, MARS, OTX2, PRKAR1A, NEUROG3, NSDHL, GJA1, BTK, FGA, B2M, KISS1R, LHCGR, FMR1, WT1, ITCH, FANCM, ABCD1, BMP4, CDC73, IRS1, SALL1, GHSR, GATA3, GNAI2, THRB, GLI2, ARNT2, SOX9, CHD7, GH1, RSPO1, APOA1, NKX2-5, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, FGFR1, SOX3, HMGA1, LEP, AKT2, CDKN1B, FSHR, CCND1, PTH, IFNG, SLC30A8, ICK, NKX2-1, MEN1, GLUD1, GDNF, MAX, PTPN1, TP63, ERCC8, FOXE1, INS, LRP6, NFKB2, GATA1, TTR, DDX3X, SLC2A2, HNF1B, RAB3GAP2, SETD2, ARX, GHR, NEUROD1, STAT1, KRAS, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, SLC16A1, SOX2, VDR, HTR1A, TP53, NONO, POLG, GPD2, MAPK8IP1, POLD1, RECQL4, CDKN1C, HNF1A, FANCA, PTEN, ALMS1, GNRH1, TAF4B, LYZ, STAT3, HESX1, HSD17B4, POLR3A, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, WRN, PTPN11, ATM, GATA6, GCGR, NSD1, SPRY4, PRLR, PRKACA, CACNA1C, INSR, CEP57, BLM, ALDOA, TBX1, CBX2, PIK3R1, STAR, GATA4, TRH, RET, MEF2A, ABCC8, HRAS, CISD2, NR0B1, POLR3B, NR3C1, ESR1, PDX1, HFE, PEX5, SHH, DICER1

steroid hydroxylase activity3.15527e-058.9113

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PREMATURE OVARIAN FAILURE 7, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, {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, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, 46XY SEX REVERSAL 3, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY

10

VDR, CYP11B1, CYP11B2, POR, IL6, CYP21A2, GATA4, ESR1, CYP17A1, NR5A1

purine ribonucleoside binding4.99097e-092.01178

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

169

GATA1, DYRK1B, MARS2, CAV1, TSC2, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, NDUFS1, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

ribonucleotide binding3.11171e-091.99181

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

172

GATA1, DYRK1B, MARS2, CAV1, PDE4D, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PDE11A, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, POR, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, TSC2, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, NDUFS1, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, PIK3R1, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, POLR3B, STX16, NR3C1, ESR1, PDX1, C10orf2, PEX5, SHH, DICER1

protein C-terminus binding0.0003795695.0445

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), {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, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2B, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, XERODERMA PIGMENTOSUM, GROUP B, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, PITUITARY ADENOMA, ACTH-SECRETING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

36

GATA1, HESX1, CAV1, PPARG, SOX2, TP53, PEX1, KISS1, TGFB1, PTPN11, THRA, NRXN1, ERCC3, KCNJ11, CASR, GJA1, VHL, STAT3, USP9X, LEP, BRCA1, KISS1R, PROP1, IFNG, ESR1, STAR, STAT1, MEN1, HRAS, PTPN1, PEX5, XRCC4, TSC1, GNAI2, PTEN, PIK3R1

activating transcription factor binding7.25495e-107.3626

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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM 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, ?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, ULNAR-MAMMARY SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AXENFELD-RIEGER SYNDROME, TYPE 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

21

GATA1, NEUROD1, STAT1, WFS1, EIF2AK3, CCND1, PITX2, TBX3, PPARG, STAT3, NR3C1, GATA4, ESR1, HNF4A, NKX2-5, POU1F1, LHX3, INS, MEF2A, TP53, BMP4

enzyme binding4.07429e-132.27179

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, KOWARSKI SYNDROME, 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, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, {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, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, KENNY-CAFFEY SYNDROME, TYPE 1, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 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, BORJESON-FORSSMAN-LEHMANN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, PENDRED SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, 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, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, 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, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, ?SPERMATOGENIC FAILURE 14, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

167

CCBE1, DYRK1B, USP8, CAV1, APPL1, PDE4D, KISS1, SALL1, PRKACA, GNAS, MAPK8IP1, ALDOA, TBX3, PPARG, OTX2, PRKAR1A, IGF2, RECQL4, BTK, FGA, B2M, KISS1R, STK11, AKT2, FMR1, WT1, BCOR, FANCA, PNPLA2, PROK2, HNF1A, NBN, ABCD1, ZMYND15, BMP4, CDC73, POR, IRS1, CDKAL1, GHSR, GATA3, GNAI2, THRB, NONO, ARNT2, PTCH1, SHOC2, CHD7, SOX2, NFKB2, APOA1, SLC26A4, NKX2-5, WFS1, AR, WRN, TCF7L2, ERCC3, IL6, HMGA1, LEP, LHX3, DMXL2, STAR, FSHR, CCND1, PTH, NR0B1, ICK, NKX2-1, MEN1, GLUD1, GLI3, CUL7, MAX, PTPN1, IFNG, TP63, DUSP6, SEC23B, INS, LRP6, GCK, GATA1, TTR, DDX3X, GJA1, SOX9, HNF1B, RAB3GAP2, USP9X, GHR, NEUROD1, STAT1, CASR, CTDP1, PITX2, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, BRCA1, NDN, KRAS, VDR, TSC2, TP53, POLG, FOXL2, LHX4, EIF2B2, ITCH, ATP7B, TSHR, PTEN, GH1, PTPN22, LYZ, STAT3, PCSK1, SERPINC1, CUL4B, POLR3A, HDAC8, STUB1, NR5A1, TGFB1, PHF6, PTPN11, ATM, GATA6, EIF2AK3, GCGR, DICER1, SPRY4, TSC1, TBCE, CACNA1C, INSR, LIPE, BLM, CBX2, PIK3R1, CDKN1B, GATA4, PTRF, CACNA1S, STRADA, TRH, RET, MEF2A, CTLA4, ABCC8, HRAS, IRS2, DNAJC3, GNRH1, CYC1, STX16, NR3C1, ESR1, PDX1, C10orf2, HFE, PEX5, SHH

drug binding0.01919985.9928

[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}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, 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}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

21

TSHR, PDE4D, APOA1, TTR, IL6, CCND1, SHH, PPARG, CAV1, IL2RA, ESR1, NR3C1, STAT3, CASR, FOXP3, PIK3R1, AR, GLI3, GNAI2, LRP6, PTPN11

phosphoric ester hydrolase activity0.0122954.2756

?PRECOCIOUS PUBERTY, CENTRAL, 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CHILD SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, LARON DWARFISM, 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}, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IC, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

46

GATA1, PDE4D, EIF2B5, GJA1, APOA1, PTEN, NR3C1, EIF2B1, GNAS, GHR, ATM, ACP5, CASR, ENPP1, MTNR1B, PPARG, INSR, PDE11A, LEP, PTPN11, NSDHL, BMP2, G6PC3, VDR, IL6, PTH, TP53, STAT1, ICK, PPP1R15B, KISS1R, HRAS, ITCH, PTPN1, GNRH1, POLR3B, XRCC4, PTPN22, CTDP1, STAT3, DUSP6, BTK, GNAI2, INS, IRS1, PIK3R1

chromatin DNA binding0.0001351267.3922

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}, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, PREMATURE OVARIAN FAILURE 7, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, AXENFELD-RIEGER SYNDROME, TYPE 1, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

15

NEUROD1, GATA1, THRA, CCND1, SOX2, TP53, ESR1, STAT3, SIX3, SOX9, INS, THRB, PITX2, NR5A1, NEUROG3

direct ligand regulated sequence-specific DNA binding transcription factor activity0.0001754057.819

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, PREMATURE OVARIAN FAILURE 7, THYROID HORMONE RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLUCOCORTICOID RESISTANCE, 46XY SEX REVERSAL 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM

13

VDR, THRA, GNAI2, CCND1, NR0B1, PPARG, ESR1, HNF4A, STAT3, NR3C1, AR, THRB, NR5A1

G-protein coupled receptor binding8.50971e-154.8372

MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CULLER-JONES SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BLOOM SYNDROME, FRASIER SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, {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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FUHRMANN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PITUITARY ADENOMA, ACTH-SECRETING, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, 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, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, SERKAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

59

RSPO1, IRS1, CAV1, GNA11, GJA1, TP53, PDE4D, STUB1, OTX2, EIF2B1, WNT3, TGFB1, GNAS, PTPN11, STAT1, FANCE, CASR, TBX19, PITX2, PPARG, INSR, PRKACA, AVP, CACNA1C, LEP, FOXL2, BMP4, BRCA1, WNT7A, BMP2, IFNG, BLM, CCND1, ESR1, IL6, PTH, CDKN1B, WT1, GATA6, WNT4, PROK2, KISS1, GDNF, TCF7L2, PTEN, HRAS, ITCH, FANCA, TSHR, GLI2, ITPR3, NR3C1, STAT3, GCGR, GNAI2, INS, LRP6, PEX5, PIK3R1

enzyme inhibitor activity1.92683e-084.0370

HARTSFIELD SYNDROME, 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, VON WILLEBRAND DISEASE, PLATELET-TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LIDDLE SYNDROME, LEPRECHAUNISM, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, IMAGE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPOID ADRENAL HYPERPLASIA, 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, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), MENTAL RETARDATION, X-LINKED 102, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PEUTZ-JEGHERS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, TIMOTHY SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, JOHANSON-BLIZZARD SYNDROME, ATAXIA-TELANGIECTASIA, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

65

PCSK1, SERPINC1, TTR, DDX3X, PPARG, APOA1, KISS1, PRKACA, GP1BA, GNA11, IGF2, TGFB1, WRN, UBR1, ATM, STAT1, CCND1, CASR, ANOS1, AVP, VHL, INSR, HNF4A, CACNA1C, LEP, PRKAR1A, BMP4, BRCA1, PITX2, CDKN1B, SCNN1G, FGA, ESR1, B2M, FGFR1, STK11, MEF2A, SPINK1, IL2RA, STAR, CDKN1C, FANCA, FMR1, STUB1, IL6, MAPK8IP1, TP53, HRAS, ITCH, PTPN1, DNAJC3, GNRH1, IRS1, BTK, IRS2, STAT3, PPP1R3A, DUSP6, SHH, GNAI2, INS, LRP6, GCGR, PTEN, PIK3R1

oxidoreductase activity2.00202e-163.27117

{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, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THYROID DYSHORMONOGENESIS 2A, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, 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, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PREMATURE OVARIAN FAILURE 7, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTISONE REDUCTASE DEFICIENCY 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, PERRAULT SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MARINESCO-SJOGREN SYNDROME, 46XY SEX REVERSAL 3, CHILD SYNDROME, CORNELIA DE LANGE SYNDROME 5, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PSEUDOHYPOPARATHYROIDISM IA, THYROID DYSHORMONOGENESIS 4, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, GLUCOCORTICOID DEFICIENCY 4, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, KABUKI SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, LEOPARD SYNDROME 1

108

TSC2, LMNA, SRD5A3, GNAS, CYP11B2, PPARG, EIF2B2, B2M, HADH, CYP11B1, H6PD, HSD17B4, MT-CO3, AKR1C4, BMP4, CDC73, POR, HSD11B1, GNAI2, THRB, GLRX5, PEX5, SOX9, APOA1, NKX2-5, AR, WRN, CBX2, MT-ND6, HMGA1, SDHB, LEP, NNT, MSMO1, IFNG, CCND1, PTH, NR0B1, GPD2, HSD17B3, STEAP3, FANCA, CYP21A2, GLUD1, ERCC8, INS, TPO, CP, ALDOA, NSDHL, SDHD, CYP27B1, STAT1, VHL, HNF4A, BMP2, HSD3B2, BRCA1, VDR, NDUFS1, SRD5A2, TANGO2, MT-ND1, GLI3, POLD1, RECQL4, ATP7B, SIL1, PTEN, EIF2B5, PCSK1, SERPINC1, MT-ND4, HDAC8, NR3C1, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, GATA4, KMT2D, AVP, STAT3, PRKACA, FXN, INSR, DUOX2, AKR1C2, EIF2B3, TP53, BLM, IL6, GATA6, MT-ND5, RET, IYD, MEF2A, HRAS, CISD2, GNRH1, CYC1, NDUFB11, BMPR1B, ESR1, PIK3R1, CYP17A1, SHH

sulfur compound binding3.22802e-124.7868

{HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, 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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

56

PTCH1, SOX9, CAV1, GJA1, APOA1, SERPINC1, FOXL2, GP1BA, IGF2, TGFB1, GNAS, PTPN11, INSR, STAT1, IL6, CASR, ENPP1, ANOS1, PITX2, FGFR1, STAT3, HS6ST1, PTH, LEP, LHX3, EIF2B2, BMP2, STAR, FGA, ESR1, B2M, CCND1, CEL, IL2RA, CDKN1B, NKX2-1, RET, TP53, POLD1, PTEN, HRAS, BMP4, FANCA, TSHR, IFNG, IRS1, LIPC, BMPR1B, RSPO1, GNRH1, TP63, GNAI2, INS, LRP6, TNXB, SHH

sequence-specific DNA binding4.25815e-283.25149

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, KOWARSKI SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, 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, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 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, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, LARON DWARFISM, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, BAMFORTH-LAZARUS SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, 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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PANCREATIC AGENESIS 2, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

134

FEZF1, TSC2, IRX5, PLAGL1, CNBP, GNAS, TBX19, GLI3, CYP11B2, TBX3, PPARG, OTX2, FOXI1, ERCC8, PROP1, TAF4B, STK11, LHX3, WT1, SIX3, KISS1, NBN, NEUROG3, BMP4, IRS1, SALL1, POU1F1, GATA3, THRB, PTEN, PTCH1, GCM2, RSPO1, APOA1, GLI2, FOXL2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, FGFR1, SOX3, HMGA1, AKT2, STAR, CCND1, PTH, IFNG, ICK, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, TSHR, TP63, TBX1, INS, NOBOX, PAX8, GATA1, TTR, DDX3X, GJA1, SOX9, HNF1B, ARX, GHR, NEUROD1, STAT1, KRAS, CASR, PITX2, HNF4A, BMP2, FOXP3, BRCA1, NDN, SOX2, VDR, HTR1A, TP53, LHX4, POLD1, MCM4, CDKN1C, HNF1A, TSHB, NONO, GH1, PAX4, GNRH1, ITCH, AIRE, AIP, HESX1, CUL4B, STUB1, NR3C1, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA6, KMT2D, NSD1, STAT3, BLM, FOXE1, CBX2, PIK3R1, CDKN1B, FOXD3, GATA4, TRH, RET, MEF2A, HRAS, IRS2, WNT4, NR0B1, POLR3B, STX16, BMPR1B, ESR1, PDX1, PRDM5, SHH

structure-specific DNA binding2.03202e-134.7468

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 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}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CULLER-JONES SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), BLOOM SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FRASIER SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, ATAXIA-TELANGIECTASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PREMATURE OVARIAN FAILURE 7, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MYOTONIC DYSTROPHY 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PERRAULT SYNDROME 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, FRAGILE X TREMOR/ATAXIA SYNDROME, RABSON-MENDENHALL SYNDROME, THYROID HORMONE RESISTANCE, LEOPARD SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, BAMFORTH-LAZARUS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

59

PEX5, GATA1, SOX9, SOX2, SLC2A2, TP53, STUB1, CNBP, NR3C1, AR, NR5A1, WRN, PTPN11, ATM, HMGA1, STAT1, IL6, PITX2, PPARG, STAT3, SOX3, CDKN1B, INSR, FOXP3, MCM4, RECQL4, NR0B1, BLM, VDR, NEUROD1, PAX4, C10orf2, CCND1, THRA, ESR1, FOXD3, FMR1, NONO, WT1, IRS2, NKX2-1, MEN1, MEF2A, TCF7L2, HRAS, MAX, ITCH, HTR1A, IFNG, PTEN, BMPR1B, TP63, SIX3, FOXE1, INS, THRB, NEUROG3, GLI2, SHH

peptide binding0.0008814474.8750

?PRECOCIOUS PUBERTY, CENTRAL, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {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, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PRADER-WILLI SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, LARON DWARFISM, TUBEROUS SCLEROSIS 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IC, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

38

GJA1, APOA1, FSHR, MTNR1B, GNAS, TGFB1, GHR, STAT1, ERCC3, IL6, CASR, APPL1, INSR, LEP, PTPN11, NDN, KISS1R, BTK, VDR, ESR1, B2M, CCND1, IFNG, GHSR, PTEN, HRAS, HLA-DQB1, TSHR, GNRH1, PEX5, PRLR, GCGR, HLA-DQA1, INS, STAT3, HFE, IRS1, PIK3R1

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen0.004062147.9115

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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}, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ESTROGEN RESISTANCE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOPARATHYROIDISM FAMILIAL ISOLATED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, VITAMIN D-DEPENDENT RICKETS, TYPE I, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPERPROINSULINEMIA

11

VDR, CYP27B1, GATA4, IL6, POR, PTH, ESR1, AR, INS, MSMO1, AKR1C2

receptor regulator activity2.696e-077.0824

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, BECKWITH-WIEDEMANN SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, IMAGE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ADRENAL CORTICAL CARCINOMA, FUHRMANN SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME

20

CCND1, BMP4, IRS1, IL6, IFNG, SHH, CDKN1B, OTX2, STAT3, HNF4A, WNT4, ESR1, CASR, TCF7L2, CDKN1C, LRP6, WNT7A, IGF2, TP53, WNT3

receptor activator activity9.34952e-067.8918

MULLERIAN APLASIA AND HYPERANDROGENISM, 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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ESTROGEN RESISTANCE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, ADRENAL CORTICAL CARCINOMA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, ?TETRA-AMELIA SYNDROME

14

CCND1, BMP4, WNT4, IL6, TP53, OTX2, BMP2, ESR1, CASR, WNT7A, STAT3, IGF2, WNT3, SHH

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen0.0002060345.5841

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}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SHORT SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, TUBEROUS SCLEROSIS 2, PSEUDOHYPOPARATHYROIDISM IC, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, PSEUDOPSEUDOHYPOPARATHYROIDISM, KABUKI SYNDROME 1, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

27

PCSK1, AR, GNAS, NR5A1, AKR1C2, CYP11B2, CYP27B1, GATA6, KMT2D, ESR1, LEP, MSMO1, VDR, IL6, PTH, IFNG, GATA4, INS, GLUD1, CYP11B1, POR, GNRH1, CYP21A2, NR3C1, STAT3, CYP17A1, PIK3R1

ribonucleoside binding5.52948e-092.01178

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

169

GATA1, DYRK1B, MARS2, CAV1, TSC2, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, NDUFS1, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

ligase activity, forming carbon-oxygen bonds0.02383837.937

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ?PERRAULT SYNDROME 2, PERRAULT SYNDROME 4, INTERSTITIAL LUNG AND LIVER DISEASE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25

7

MARS2, IARS2, LARS2, SARS2, MARS, AARS2, HARS2

protease binding0.0004379446.4627

{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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, 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}, RABSON-MENDENHALL SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1

20

CCBE1, IRS2, HNF1A, CASR, IL6, LEP, TP53, SOX9, INSR, NR3C1, CACNA1C, POLG, BMP2, SERPINC1, C10orf2, INS, LRP6, TGFB1, IFNG, PIK3R1

protein complex binding5.73075e-072.91114

{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, COCKAYNE SYNDROME, TYPE A, 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, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, WERNER SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ALSTROM SYNDROME, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, 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, 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, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, {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, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PEROXISOME BIOGENESIS DISORDER 2B, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA 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, LEOPARD SYNDROME 1

105

CCBE1, TSC2, CAV1, LMNA, SALL1, GNAS, CYP11B2, ENPP1, PPARG, PRKAR1A, RECQL4, GJA1, BTK, FGA, B2M, STK11, LIPE, NDUFB11, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, PTCH1, WNT7A, CHD7, KRAS, AR, IGF2, THRA, FGFR1, LEP, TNXB, STAR, CCND1, PTH, IFNG, ICK, FMR1, GLUD1, GDNF, MAX, FANCA, STAT3, SEC23B, INS, GATA1, GNA11, SLC2A2, IL2RA, SOX9, HNF1B, NEUROD1, STAT1, CASR, VHL, KIF1B, USP9X, BMP2, BRCA1, SOX2, VDR, TP53, MAPK8IP1, ERCC8, HNF1A, PTPN1, PEX5, ALMS1, LYZ, AIP, PEX1, POLR3A, STUB1, BMPR1B, NR5A1, TGFB1, WRN, PTPN11, ATM, TSHR, GCGR, APPL1, TP63, PRKACA, INSR, CEP57, KIF7, IL6, PIK3R1, CDKN1B, TRH, RET, MEF2A, HRAS, IRS2, GNRH1, CYC1, STX16, NR3C1, ESR1, SHH, PDX1

thyroid-stimulating hormone receptor activity0.019885612.574

HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

3

NKX2-1, PAX8, TSHR

protein homodimerization activity1.35457e-083.04116

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, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ALSTROM SYNDROME, 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, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, 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, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, WOLFRAM SYNDROME 2, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIGEORGE SYNDROME, 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, CHILD SYNDROME, 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}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, PEROXISOME BIOGENESIS DISORDER 2B, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, LIPOID ADRENAL HYPERPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

108

TSC2, CAV1, SALL1, GNAS, CACNA1C, NRXN1, ALDOA, TBX3, ENPP1, PPARG, OTX2, PRKAR1A, NEUROG3, RECQL4, BTK, FGA, B2M, ABCD1, BMP4, CDC73, IRS1, GNAI2, PTEN, SOX9, KRAS, APOA1, GLI2, NKX2-5, AR, WRN, TCF7L2, THRA, IL6, FGFR1, HMGA1, LEP, AKT2, CDKN1B, FSHR, CCND1, PTH, NR0B1, SLC30A8, NKX2-1, GDNF, MAX, PTPN1, IFNG, GLUD1, TBX1, INS, LRP6, PITX2, DDX3X, GJA1, HNF1B, ARX, GHR, NEUROD1, STAT1, CASR, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, SOX2, VDR, HTR1A, TP53, GPD2, MAPK8IP1, NSDHL, HNF1A, PEX5, ALMS1, LYZ, STAT3, HSD17B4, POLR3A, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, GATA4, GCGR, DICER1, PRLR, PRKACA, FXN, INSR, CEP57, SLC16A1, STAR, RET, MEF2A, HRAS, CISD2, CBX2, NR3C1, ESR1, SHH, HFE, PDX1

substrate-specific transmembrane transporter activity2.46282e-063.2190

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, COCKAYNE SYNDROME, TYPE A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RENAL CYSTS AND DIABETES SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THYROID DYSHORMONOGENESIS 1, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, ACRODERMATITIS ENTEROPATHICA, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, GLUCOCORTICOID DEFICIENCY 4, ?46XY SEX REVERSAL 5, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

88

TSC2, CAV1, SLC5A5, PDE4D, KISS1, KCNJ11, TBX3, PPARG, PRKAR1A, ERCC8, GJA1, FGA, B2M, FMR1, NDUFB11, HNF1A, MT-CO3, AKR1C4, BMP4, CDC73, GNAI2, PTEN, KRAS, APOA1, SCNN1G, CLCNKA, AR, SLC39A4, SLC16A1, CACNA1D, FGFR1, LEP, NNT, KCNJ1, PTH, IFNG, SLC30A8, ICK, NKX2-1, GLIS3, CASR, PTPN1, STAT3, INS, ABCC8, SLC12A1, ALDOA, SLC2A2, HNF1B, SDHD, SCNN1B, SLC29A3, STAT1, SLC19A2, PITX2, KCNJ5, TP53, PIEZO1, SLC26A4, KISS1R, BSND, SLC37A4, ATP7B, PEX5, ITPR3, SLC40A1, EIF2B1, TGFB1, PTPN11, GATA4, PRKACA, CACNA1C, SLC2A4, CCND1, IL6, STAR, CACNA1S, CLCNKB, TRH, CTNS, HRAS, IRS2, CBX2, CYC1, ESR1, GCGR, SLC12A3, PIK3R1

peptidase inhibitor activity1.88476e-055.2142

HARTSFIELD SYNDROME, [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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

35

PCSK1, SERPINC1, TTR, FGFR1, APOA1, IGF2, ANOS1, STAT1, ERCC3, CCND1, CASR, TGFB1, PITX2, VHL, BMP2, LEP, TP53, FGA, ESR1, B2M, SPINK1, IL2RA, CDKN1B, IL6, BMP4, TSHR, FANCA, GNRH1, PTEN, STAT3, PIK3R1, INS, LRP6, AVP, SHH

amide binding0.001112414.8550

?PRECOCIOUS PUBERTY, CENTRAL, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {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, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PRADER-WILLI SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, LARON DWARFISM, TUBEROUS SCLEROSIS 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IC, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, 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, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

38

GJA1, APOA1, FSHR, MTNR1B, GNAS, TGFB1, GHR, STAT1, ERCC3, IL6, CASR, APPL1, INSR, LEP, PTPN11, NDN, KISS1R, BTK, VDR, ESR1, B2M, CCND1, IFNG, GHSR, PTEN, HRAS, HLA-DQB1, TSHR, GNRH1, PEX5, PRLR, GCGR, HLA-DQA1, INS, STAT3, HFE, IRS1, PIK3R1

transcription factor binding2.34981e-153.8696

{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, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BARDET-BIEDL SYNDROME 6, CORNELIA DE LANGE SYNDROME 5, 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}, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIGEORGE SYNDROME, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THYROID HORMONE RESISTANCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, VELOCARDIOFACIAL SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HOLOPROSENCEPHALY-9, ATAXIA-TELANGIECTASIA, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEOPARD SYNDROME 1

86

SALL1, MAPK8IP1, TBX3, PPARG, OTX2, PRKAR1A, TAF4B, STK11, AKT2, WT1, SIX3, BCOR, NBN, BMP4, IRS1, WFS1, POU1F1, GATA3, GNAI2, THRB, GLI2, ARNT2, SOX9, CHD7, SOX2, NKX2-5, AR, TCF7L2, THRA, ERCC3, HMGA1, LHX3, CCND1, PTH, NR0B1, ICK, NKX2-1, MEN1, MKKS, MAX, STAT3, TBX1, INS, GATA1, DDX3X, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, AIP, TP53, GLI3, HNF1A, NONO, VDR, HDAC8, STUB1, NR5A1, TGFB1, PTPN11, ATM, GATA4, EIF2AK3, NSD1, PRKACA, CACNA1C, IL6, PIK3R1, CDKN1B, FOXD3, GATA6, MEF2A, PTEN, HRAS, POLR3B, STX16, NR3C1, ESR1, SHH, PRDM5, PDX1

cation transmembrane transporter activity0.0009236873.7170

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, 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, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WILSON DISEASE, 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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, GLYCOGEN STORAGE DISEASE XII, GITELMAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?46XY SEX REVERSAL 5, GLUCOCORTICOID DEFICIENCY 4, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HEMOCHROMATOSIS, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LIPOID ADRENAL HYPERPLASIA, AXENFELD-RIEGER SYNDROME, TYPE 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}, TIMOTHY SYNDROME, ACRODERMATITIS ENTEROPATHICA, BARTTER SYNDROME, TYPE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, LEOPARD SYNDROME 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL CYSTS AND DIABETES SYNDROME, THYROID DYSHORMONOGENESIS 1, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

63

TSC2, AR, CAV1, SLC40A1, FGFR1, SLC5A5, TP53, PDE4D, HNF1B, KCNJ5, EIF2B1, SCNN1B, TGFB1, SLC39A4, PTPN11, STAT1, ALDOA, PIEZO1, KCNJ11, TBX3, CACNA1D, PPARG, ESR1, PRKACA, CACNA1C, PRKAR1A, BMP4, NNT, KRAS, IFNG, KCNJ1, B2M, CCND1, CBX2, PTH, PIK3R1, STAR, SLC30A8, GATA4, ICK, CACNA1S, NKX2-1, GLIS3, SCNN1G, HNF1A, MT-CO3, PTEN, HRAS, GJA1, CDC73, PTPN1, TSHR, CYC1, ITPR3, IRS2, STAT3, SLC12A1, SLC12A3, INS, ATP7B, ABCC8, PITX2, SHH

DNA secondary structure binding0.044021310.166

WERNER SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MULTIPLE ENDOCRINE NEOPLASIA 1, ROTHMUND-THOMSON SYNDROME, HYPERPARATHYROIDISM 1, BLOOM SYNDROME

5

MEN1, WRN, RECQL4, NR0B1, BLM

lipid binding8.97388e-073.2998

{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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CULLER-JONES 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, BARTTER SYNDROME, TYPE 2, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RABSON-MENDENHALL SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, {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, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, 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, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

89

STAR, PLIN1, CAV1, IRX5, IGSF1, KISS1, MTNR1B, GNAS, GLI3, DDX3X, TBX3, PPARG, BTK, FGA, B2M, LIPE, PNPLA2, IRS1, GNAI2, PEX5, PTCH1, SOX9, CHD7, KRAS, APOA1, NKX2-5, AR, IGF2, CCND1, CACNA1D, FGFR1, LEP, AKT2, IFNG, FSHR, KCNJ1, NR0B1, GLIS3, MEN1, GLUD1, GDNF, TSHR, CYP21A2, TP63, INS, LRP6, GATA1, TTR, ALDOA, GJA1, STAT1, CASR, NFKB2, HNF4A, VDR, TP53, MAPK8IP1, ITCH, HNF1A, SIL1, GLI2, ITPR3, SERPINC1, RETN, NR3C1, NR5A1, TGFB1, PTRF, PTPN11, GATA4, AVP, SPRY4, STAT3, CACNA1C, INSR, AKR1C2, IL6, PIK3R1, CDKN1B, PTEN, HRAS, IRS2, GNRH1, POLR3B, STX16, BMPR1B, ESR1, GCGR, SHH

protein kinase inhibitor activity9.50769e-067.121

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BECKWITH-WIEDEMANN 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, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, FANCONI ANEMIA, COMPLEMENTATION GROUP A, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ATAXIA-TELANGIECTASIA

16

ATM, CDKN1C, DNAJC3, CDKN1B, STAT1, STAT3, PRKACA, IRS2, ESR1, PRKAR1A, BTK, BRCA1, INS, MAPK8IP1, TGFB1, HRAS

RNA polymerase II transcription coactivator activity0.0009244958.4313

AXENFELD-RIEGER SYNDROME, TYPE 1, 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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HYPERPROINSULINEMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

10

NEUROD1, NKX2-5, TP53, PPARG, POU1F1, ESR1, LHX3, INS, MEF2A, PITX2

RNA polymerase II transcription corepressor activity0.01538428.3210

TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, PANHYPOPITUITARISM, X-LINKED, {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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY

9

MAX, GATA4, TP53, SOX3, SALL1, AR, TGFB1, SOX2, TCF7L2

peptide receptor activity0.0422896.2828

?PRECOCIOUS PUBERTY, CENTRAL, 1, 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}, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERPROINSULINEMIA, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, 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, VON WILLEBRAND DISEASE, PLATELET-TYPE, CAMURATI-ENGELMANN DISEASE, ESTROGEN RESISTANCE, 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, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

17

TACR3, IL6, LEP, GCGR, SEMA3A, STAT3, PROKR2, ESR1, FOXP3, PIK3R1, GP1BA, PTPN11, INS, GNAS, TGFB1, KISS1R, HRAS

enhancer binding3.02893e-086.4528

{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, HYPERPARATHYROIDISM 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, 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, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESTROGEN RESISTANCE, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

24

GATA1, SOX9, MEN1, NKX2-5, TBX19, MEF2A, TCF7L2, NEUROD1, GATA4, GDNF, PPARG, STAT3, BRCA1, CCND1, TP53, BMP4, NKX2-1, RET, ARX, SIX3, PAX4, ESR1, GATA3, INS

RNA polymerase II activating transcription factor binding2.15848e-077.8220

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, MICROPHTHALMIA, SYNDROMIC 6, 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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, GLUCOCORTICOID RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERPROINSULINEMIA

16

NEUROD1, GATA1, STAT1, NKX2-5, TBX3, CCND1, PITX2, STAT3, NR3C1, ESR1, HNF4A, POU1F1, LHX3, INS, TP53, BMP4

serine-type endopeptidase inhibitor activity0.04674386.1423

HARTSFIELD SYNDROME, [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, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), TUBEROUS SCLEROSIS 2, HYPERTHYROIDISM, NONAUTOIMMUNE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

19

FGA, SERPINC1, APOA1, TTR, TSHR, CCND1, SHH, FGFR1, ANOS1, TP53, IL2RA, B2M, SPINK1, LEP, IL6, INS, LRP6, TGFB1, PIK3R1

hormone receptor binding1.95704e-145.5561

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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CAMURATI-ENGELMANN DISEASE, KOWARSKI SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, BECKWITH-WIEDEMANN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, 46,XX SEX REVERSAL, TYPE 2, {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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 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, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LARON DWARFISM, {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, THYROID HORMONE RESISTANCE, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

44

SOX9, PPARG, SLC2A2, TP53, STUB1, NKX2-5, AR, NR5A1, TGFB1, GNAS, GHR, THRA, ERCC3, GNRHR, PITX2, VHL, INSR, HMGA1, LEP, PTPN11, BRCA1, BMP2, NR0B1, VDR, ESR1, B2M, IL6, PTH, CDKN1B, GATA4, FOXL2, LHX4, TCF7L2, BMP4, HNF1A, GNRH1, PTEN, GH1, NR3C1, STAT3, INS, THRB, NSD1, PIK3R1

hormone binding6.34038e-116.8336

PREMATURE OVARIAN FAILURE 7, [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}, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, 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, ?HYPERPROLACTINEMIA, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LARON DWARFISM, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, RABSON-MENDENHALL SYNDROME, THYROID HORMONE RESISTANCE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

26

TTR, RETN, AR, NR5A1, GHR, THRA, CASR, LEP, PPARG, ESR1, INSR, LHCGR, TP53, BMP4, PRLR, THRB, HRAS, IRS2, GNRH1, PTEN, GHSR, GCGR, INS, STAT3, LRP6, PIK3R1

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription9.1888e-126.240

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, 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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, 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, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PREMATURE OVARIAN FAILURE 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

33

GATA1, SOX9, CHD7, SOX2, HTR1A, PAX4, AR, NR5A1, GDNF, GATA4, ZBTB20, PITX2, PPARG, STAT3, SOX3, OTX2, BMP2, VDR, ESR1, CCND1, TP53, FOXD3, NKX2-1, GLIS3, ARX, NEUROG3, BMP4, PTEN, NR3C1, TP63, GATA3, INS, PDX1

ubiquitin protein ligase binding0.001627525.6129

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}, 3-M SYNDROME 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, CARNEY COMPLEX, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADRENAL CORTICAL CARCINOMA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEOPARD SYNDROME 1

26

PDE4D, CUL4B, DDX3X, STUB1, AR, PTPN11, ATM, STAT1, CAV1, PRKACA, PRKAR1A, BRCA1, BLM, B2M, CCND1, PTH, TP53, BMP4, IL6, ITCH, PTEN, WFS1, IRS2, TP63, CUL7, IRS1

heparin binding1.05332e-125.2860

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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HARTSFIELD SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPOID ADRENAL HYPERPLASIA, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

47

PTCH1, SOX9, CAV1, RSPO1, APOA1, SERPINC1, FOXL2, GP1BA, IGF2, ANOS1, GNAS, PTPN11, STAT1, IL6, CASR, TGFB1, PITX2, FGFR1, STAT3, PTH, LEP, LHX3, BMP2, CDKN1B, FGA, ESR1, B2M, CCND1, CEL, IL2RA, STAR, NKX2-1, RET, TP53, HRAS, BMP4, FANCA, TSHR, IFNG, TNXB, LIPC, GNRH1, TP63, INS, LRP6, PTEN, SHH

alcohol binding8.83058e-056.1230

PREMATURE OVARIAN FAILURE 7, [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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HARTSFIELD SYNDROME, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HOLOPROSENCEPHALY-7, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

24

PTCH1, FGA, TTR, CAV1, PPARG, IRX5, APOA1, NR5A1, TGFB1, CASR, FGFR1, LEP, TP53, VDR, B2M, IL6, STAR, GLI3, NR0B1, ITPR3, NR3C1, ESR1, GNAI2, INS

tetrapyrrole binding6.66814e-095.7838

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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, THRYOID DYSHORMONOGENESIS 6, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, THYROID DYSHORMONOGENESIS 2A, LEOPARD SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

30

FGA, SDHD, APOA1, AR, NR5A1, PTPN11, CYP27B1, GATA4, CYP11B2, CASR, LEP, HMGA1, BMP2, DUOX2, VDR, IL6, PTH, IL2RA, IFNG, INS, GLI3, CYP11B1, POR, GNRH1, CYC1, CYP21A2, ESR1, PIK3R1, CYP17A1, TPO

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription1.11456e-164.8767

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, DIGEORGE SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, PANCREATIC AGENESIS 2, 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, NIJMEGEN BREAKAGE SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CULLER-JONES SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PREMATURE OVARIAN FAILURE 7, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, PANCREATIC AND CEREBELLAR AGENESIS, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, VELOCARDIOFACIAL SYNDROME, PREMATURE OVARIAN FAILURE 5, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, BECKWITH-WIEDEMANN SYNDROME, RENAL CYSTS AND DIABETES 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}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMAGE SYNDROME

59

GATA1, SOX9, SHH, SOX2, STUB1, NKX2-5, OTX2, NR3C1, AR, IGF2, TGFB1, NR5A1, TCF7L2, NEUROD1, THRA, PTF1A, IL6, TBX3, GDNF, PITX2, PPARG, STAT3, SOX3, PLAGL1, BMP2, BMP4, LHX3, TAF4B, VDR, ESR1, BRCA1, CCND1, TP53, WT1, GATA6, GATA4, NKX2-1, HNF4A, GLIS3, HNF1B, MEN1, MEF2A, NBN, NEUROG3, CDKN1C, POU1F1, HNF1A, PDX1, GLI2, CNBP, HAMP, TP63, GATA3, SIX3, TBX1, INS, NOBOX, NSD1, PAX8

transmembrane receptor protein kinase activity0.001776536.6124

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}, LEPRECHAUNISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

18

BMP4, LHX3, PTPN1, SHH, PTEN, FGFR1, BMP2, BMPR1B, STAT3, CAV1, PIK3R1, RET, PTPN11, IGF2, TGFB1, TP53, HRAS, INSR

peptide hormone receptor binding0.0003341248.9520

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}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPERPROINSULINEMIA, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

9

TSHR, IL6, PTH, CDKN1B, NR3C1, LEP, INS, GNAS, PTPN11

gated channel activity0.007812514.6845

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, 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, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LYMPHEDEMA, HEREDITARY, III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

35

PDE4D, CAV1, GJA1, SCNN1G, CLCNKA, KCNJ5, EIF2B1, SCNN1B, TGFB1, PTPN11, KCNJ11, CASR, CACNA1D, PRKACA, CACNA1C, BSND, CCND1, KCNJ1, IFNG, PIEZO1, CACNA1S, NKX2-1, TRH, HRAS, CDC73, PEX5, ITPR3, CLCNKB, STAT3, GNAI2, INS, GLIS3, ABCC8, PTEN, PIK3R1

receptor binding6.4915e-122.37164

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}, 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, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, 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, 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, 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, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LARON DWARFISM, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOPARATHYROIDISM IA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, 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, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, CHILD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, PITUITARY DEPENDENT HYPERCORTISOLISM, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, 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, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLYCEROL KINASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, 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, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS TYPE 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, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

156

PDE4D, CAV1, AMACR, FSHB, PLAGL1, SALL1, MTNR1B, GNA11, SEMA3E, TBX19, MAPK8IP1, FXN, NRXN1, CYP11B2, ENPP1, PPARG, CDKN1B, OTX2, EIF2B2, GJA1, BTK, FGA, B2M, KISS1R, LHCGR, FGF17, WT1, ITCH, FANCA, PROK2, KISS1, HSD17B4, BMP4, TNXB, GHSR, GATA3, GNAI2, THRB, PEX5, ARNT2, PTCH1, WNT7A, GH1, RSPO1, APOA1, GLI2, FOXL2, NKX2-5, HAMP, AR, FSHR, IGF2, GNAS, RNF216, THRA, ERCC3, KCNJ1, GNRHR, FGFR1, POU1F1, HMGA1, LEP, AKT2, IFNG, ESR1, GK, CCND1, PTH, NR0B1, NKX2-1, WNT3, GLUD1, GDNF, GLI3, PTPN1, TP63, INS, LRP6, PITX2, PAX8, GATA1, TTR, KCNJ11, HFE2, SLC2A2, IL2RA, SOX9, GHR, TSHB, STAT1, KRAS, CASR, NFKB2, VHL, TG, HNF4A, BMP2, FOXP3, BRCA1, SOX2, PCSK1, TP53, LHX4, POLD1, NSDHL, CDKN1C, HNF1A, TSHR, PTEN, ITPR3, PAX4, LYZ, TAC3, VDR, NRAS, IRS1, SLC40A1, SEMA3A, LHB, STUB1, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, WRN, PTPN11, ATM, GATA6, KMT2D, GCGR, NSD1, STAT3, PRKACA, CACNA1C, INSR, RECQL4, TCF7L2, BLM, IL6, STAR, GATA4, TRH, RET, ABCC8, HRAS, IRS2, WNT4, GNRH1, POLR3B, NR3C1, PRLR, PIK3R1, HFE, AVP, SHH

chromatin binding1.46234e-194.0196

{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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, FANCONI ANEMIA, COMPLEMENTATION GROUP E, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {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}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, VELOCARDIOFACIAL SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 2, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

88

SALL1, FANCE, PPARG, OTX2, RECQL4, PROP1, STK11, AKT2, WT1, SIX3, FANCM, NEUROG3, BMP4, CDC73, IRS1, POU1F1, THRB, GLI2, PTCH1, SOX9, CHD7, SOX2, HTR1A, NKX2-5, AR, WRN, TCF7L2, THRA, PTF1A, CBX2, SOX3, HMGA1, LHX3, CCND1, PTH, NR0B1, MEN1, MAX, FANCA, TP63, TBX1, INS, PAX8, GATA1, DIS3L2, DDX3X, HNF1B, ARX, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, BRCA1, VDR, TP53, GLI3, POLD1, MCM4, ITCH, NONO, AIRE, HESX1, POLR3A, NR5A1, TGFB1, IGF2, PTPN11, ATM, GATA6, KMT2D, NSD1, STAT3, BLM, IL6, GATA4, ERCC3, MEF2A, PTEN, POLG, GNRH1, POLR3B, NR3C1, ESR1, SHH, PDX1

enzyme activator activity0.001425533.8170

MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HARTSFIELD SYNDROME, [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}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?HYPERPROLACTINEMIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PEUTZ-JEGHERS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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}, MULTIPLE ENDOCRINE NEOPLASIA 1, {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, 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

60

TSC2, TTR, CAV1, PPARG, KRAS, APPL1, APOA1, STX16, RAB3GAP2, AR, IGF2, TGFB1, GDNF, PTPN11, GATA6, ERCC3, RIN2, CASR, PITX2, GNA11, STAT3, BLK, INSR, PRKAR1A, AKT2, BMP2, GJA1, BTK, ESR1, B2M, FGFR1, STK11, LYZ, CCND1, PTH, HTR1A, CDKN1B, STAT1, GATA4, GNAS, PNPLA2, MEN1, IL6, GLUD1, MAPK8IP1, TP53, PTEN, HRAS, BMP4, POLR3B, ITPR3, STRADA, BMPR1B, PRLR, SHH, GNAI2, SLC2A4, INS, IRS1, PIK3R1

peptide hormone binding0.0001109628.1116

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LARON DWARFISM, {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}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, RABSON-MENDENHALL SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?HYPERPROLACTINEMIA, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEPRECHAUNISM, HYPERPROINSULINEMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

12

IRS2, GNRH1, PIK3R1, SEMA3A, LEP, PRLR, GHR, INS, GCGR, GHSR, HRAS, INSR

endopeptidase activity0.005207693.9655

MULLERIAN APLASIA AND HYPERANDROGENISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {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, WITH FACIAL DYSMORPHISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, JOHANSON-BLIZZARD SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, PERRAULT SYNDROME 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VON WILLEBRAND DISEASE, PLATELET-TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FUHRMANN SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BANNAYAN-RILEY-RUVALCABA 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}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

55

PCSK1, SERPINC1, AR, CAV1, PPARG, APPL1, TP53, WNT7A, GNRH1, PTEN, CAPN10, GP1BA, IGF2, TGFB1, UBR1, STAT1, IL6, SIL1, VHL, STAT3, USP9X, FXN, LEP, CLPP, DNAJC3, BMP2, CDKN1B, VDR, HLA-DQA1, CCND1, PTH, FMR1, BMP4, ZMPSTE24, TRH, WNT4, FGA, CTNS, LRP6, HRAS, ITCH, HNF1A, TSHR, PTPN1, IFNG, USP8, HAMP, IRS2, ESR1, SHH, LYZ, INS, HFE, IRS1, PIK3R1

small conjugating protein ligase binding0.001627525.6129

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}, 3-M SYNDROME 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, CARNEY COMPLEX, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADRENAL CORTICAL CARCINOMA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEOPARD SYNDROME 1

26

PDE4D, CUL4B, DDX3X, STUB1, AR, PTPN11, ATM, STAT1, CAV1, PRKACA, PRKAR1A, BRCA1, BLM, B2M, CCND1, PTH, TP53, BMP4, IL6, ITCH, PTEN, WFS1, IRS2, TP63, CUL7, IRS1

kinase regulator activity4.92846e-125.4749

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, [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}, IMAGE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

41

TTR, GJA1, AR, IGF2, TGFB1, GDNF, PTPN11, ATM, STAT1, IL6, GCGR, PITX2, STAT3, PRKACA, INSR, PRKAR1A, BMP4, BRCA1, BMP2, TP53, BTK, ESR1, STK11, CCND1, CDKN1B, GATA6, GATA4, STRADA, MAPK8IP1, HRAS, CDKN1C, CDC73, DNAJC3, IRS1, TP63, SHH, GNAI2, INS, LRP6, PTEN, PIK3R1

kinase activator activity0.001016516.9916

SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, [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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CAMURATI-ENGELMANN DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PEUTZ-JEGHERS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS

16

BMP4, TTR, IL6, CCND1, IRS1, BMP2, GATA4, STRADA, STAT3, SHH, STK11, IGF2, TGFB1, PTEN, PIK3R1, GATA6

RNA polymerase II transcription cofactor activity1.89807e-086.5931

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, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?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, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

25

GATA1, SOX2, SALL1, SOX3, AR, TCF7L2, NEUROD1, THRA, PITX2, PPARG, ESR1, HNF4A, LHX3, NR3C1, VDR, TP53, GATA4, MEF2A, MAX, BMP4, NKX2-5, BMPR1B, POU1F1, INS, THRB

receptor activity1.6505e-082.42149

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, 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, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, 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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, [PHENYLTHIOCARBAMIDE TASTING], DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS-LIKE SYNDROME 2, HOLOPROSENCEPHALY-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, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE 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, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, 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, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?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, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, 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, PEROXISOME BIOGENESIS DISORDER 2B, HEMOCHROMATOSIS, TYPE 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

144

PDE4D, CAV1, SHH, IGSF1, FSHB, SALL1, MTNR1B, SEMA3E, GLI3, NRXN1, CYP11B2, KCNJ11, TBX3, ENPP1, PPARG, INSR, PRKAR1A, AKR1C2, EIF2B2, BTK, FGA, B2M, LHCGR, FMR1, WT1, SIX3, NDUFB11, PROK2, BMP4, IRS1, EIF2B4, GHSR, GATA3, GNAI2, THRB, PTEN, PTCH1, WNT7A, GP1BA, KRAS, APOA1, NKX2-5, AR, IGF2, GNAS, RNF216, THRA, GNRHR, FGFR1, HMGA1, PTH, LEP, LHX3, CDKN1B, ESR1, FSHR, HLA-DQA1, CCND1, CEL, IFNG, NRAS, NKX2-1, MEN1, GDNF, PTPN1, LIPC, PROKR2, TP63, DUSP6, SEC23B, INS, LRP6, NFKB2, PAX8, GATA1, TTR, DDX3X, HFE2, GJA1, IL2RA, SOX9, HNF1B, GHR, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, VDR, HTR1A, TP53, IRS2, MAPK8IP1, KISS1R, ITCH, HNF1A, TSHR, GLI2, ITPR3, HAMP, GNRH1, LYZ, SERPINC1, SEMA3A, STUB1, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, GATA6, KMT2D, TACR3, GCGR, APPL1, STAT3, PRKACA, CACNA1C, TFR2, TCF7L2, SLC2A4, BLM, TAS2R38, IL6, STAR, TRH, RET, MEF2A, ABCC8, HRAS, HLA-DQB1, NR0B1, NR3C1, PRLR, PIK3R1, HFE, PEX5, PDX1

signal transducer activity5.01578e-072.37144

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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOPARATHYROIDISM IA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, 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, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?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, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}

142

PDE4D, CAV1, IGSF1, FSHB, SALL1, MTNR1B, GNA11, SEMA3E, GLI3, TCF7L2, ALDOA, TBX3, TP63, PPARG, FLRT3, PRKAR1A, EIF2B2, BTK, FGA, B2M, LHCGR, LHX3, FMR1, WT1, BMP4, SIX3, IRS1, NRAS, GHSR, GATA3, GNAI2, THRB, PEX5, ARNT2, PTCH1, WNT7A, GP1BA, KRAS, APOA1, GLI2, NKX2-5, AR, IGF2, GNAS, RNF216, THRA, ERCC3, IL6, GNRHR, FGFR1, HMGA1, PTH, LEP, AKT2, CDKN1B, FSHR, HLA-DQA1, CCND1, CEL, IFNG, NKX2-1, MEN1, GDNF, PTPN1, LIPC, PROKR2, STAT3, SEC23B, INS, LRP6, NFKB2, PAX8, GATA1, TTR, DDX3X, HFE2, GJA1, IL2RA, HESX1, GHR, NEUROD1, STAT1, CASR, PITX2, SOX9, VHL, KIF1B, HNF4A, BMP2, FOXP3, VDR, HTR1A, TP53, IRS2, MAPK8IP1, KISS1R, CDKN1C, TSHR, PTEN, ITPR3, HAMP, GNRH1, LYZ, AIP, SERPINC1, SEMA3A, STUB1, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, KMT2D, TACR3, GCGR, AVP, PRLR, PRKACA, INSR, AKR1C2, SLC2A4, BLM, TAS2R38, CBX2, PIK3R1, STAR, TRH, RET, MEF2A, ABCC8, HRAS, HLA-DQB1, EIF2AK3, NR0B1, STX16, NR3C1, ESR1, PDX1, HFE, SHH

purine nucleoside binding5.52948e-092.01178

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

169

GATA1, DYRK1B, MARS2, CAV1, TSC2, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, NDUFS1, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

nucleoside binding7.20843e-092.01178

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PERRAULT SYNDROME 5, 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, OVARIAN DYSGENESIS 4, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, 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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PREMATURE OVARIAN FAILURE 9, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 1, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, ?HYPERPROLACTINEMIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

169

GATA1, DYRK1B, MARS2, CAV1, TSC2, CNBP, MTNR1B, GNAS, MAPK8IP1, AP2S1, KCNJ11, ENPP1, PPARG, PRKAR1A, HARS2, RECQL4, RBM28, BTK, FGA, B2M, KISS1R, STK11, AKT2, KIF7, KIF1B, WT1, ITCH, PPP1R15B, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, NRAS, GNAI2, THRB, PTEN, WNT7A, HSD17B4, CHD7, KRAS, NFKB2, APOA1, GLI2, SCNN1G, AR, WRN, THRA, ERCC3, KCNJ1, FGFR1, BLK, HMGA1, LEP, LHX3, MARS, GK, AARS2, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, IL6, GLUD1, MKKS, CASR, PTPN1, LARS2, PAPSS2, TP63, DUSP6, SEC23B, INS, LRP6, GCK, MCM8, PLIN1, DIS3L2, TTR, DDX3X, GNA11, GJA1, IL2RA, SOX9, OAS1, NEUROD1, STAT1, IARS2, CTDP1, NIN, VHL, SMARCAL1, BMP2, BRCA1, DNAJC3, SEMA3A, VDR, NDUFS1, HTR1A, TP53, POLG, LIPE, LHX4, POLD1, EIF2B2, MCM4, CDKN1C, ATP7B, FANCA, SIL1, NONO, ITPR3, TSC1, STAT3, CYC1, AIP, PEX1, CUL4B, EIF2B5, POLR3A, MCM9, RAB23, STUB1, BMPR1B, EIF2B1, TGFB1, IGF2, ENTPD1, ATM, GATA6, KMT2D, EIF2AK3, GCGR, HFM1, APPL1, PRLR, PRKACA, INSR, PTPN11, SLC2A4, PCNT, PITX2, FMR1, BLM, CBX2, CDKN1B, GATA4, RAB40AL, STRADA, RET, MEF2A, ABCC8, HRAS, IRS2, SARS2, GNRH1, PDX1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, PEX5, SHH, DICER1

steroid 11-beta-monooxygenase activity0.019885612.576

ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PREMATURE OVARIAN FAILURE 7, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 46XY SEX REVERSAL 3

3

CYP11B1, CYP11B2, NR5A1

ion transmembrane transporter activity6.22125e-053.3285

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 1, 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, HYPERPARATHYROIDISM 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, WILSON DISEASE, SHORT SYNDROME, PENDRED'S SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, GLYCOGEN STORAGE DISEASE XII, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, HYPERPARATHYROIDISM, NEONATAL, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?46XY SEX REVERSAL 5, GLUCOCORTICOID DEFICIENCY 4, AXENFELD-RIEGER SYNDROME, TYPE 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, FRAGILE X TREMOR/ATAXIA SYNDROME, HEMOCHROMATOSIS, TYPE 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE IC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, TIMOTHY SYNDROME, ACRODERMATITIS ENTEROPATHICA, BARTTER SYNDROME, TYPE 1, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, LEOPARD SYNDROME 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LYMPHEDEMA, HEREDITARY, III, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, RENAL CYSTS AND DIABETES SYNDROME, THYROID DYSHORMONOGENESIS 1, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

80

PEX5, TSC2, AR, CAV1, SLC30A8, SLC40A1, FGFR1, SLC5A5, GJA1, APOA1, KCNJ1, HNF1B, CLCNKA, PTEN, KCNJ5, EIF2B1, SCNN1B, KRAS, TGFB1, SLC39A4, PTPN11, GATA4, ALDOA, PIEZO1, CCND1, TBX3, SLC26A4, GCGR, CACNA1D, PPARG, ESR1, PRKACA, CACNA1C, SCNN1G, PRKAR1A, HRAS, NNT, KISS1R, PITX2, FMR1, FGA, B2M, SLC12A3, CBX2, PTH, AKR1C4, STAR, TRH, STAT1, ICK, CACNA1S, INS, NKX2-1, GLIS3, KISS1, HNF1A, MT-CO3, TP53, ERCC8, BSND, BMP4, CTNS, SLC37A4, CDC73, CASR, PTPN1, IFNG, KCNJ11, ITPR3, CLCNKB, IRS2, STAT3, PIK3R1, GNAI2, SLC16A1, ATP7B, ABCC8, PDE4D, CYC1, SLC12A1

RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription0.0008555787.8513

TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MICROPHTHALMIA, SYNDROMIC 6, PANHYPOPITUITARISM, X-LINKED, {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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, AXENFELD-RIEGER SYNDROME, TYPE 1, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY

12

MAX, ITCH, SALL1, TP53, BMP4, SOX3, GATA4, SOX2, STAT3, AR, PITX2, TCF7L2

RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription9.48461e-067.6618

AXENFELD-RIEGER SYNDROME, TYPE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MICROPHTHALMIA, SYNDROMIC 6, ESTROGEN RESISTANCE, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PREMATURE OVARIAN FAILURE 7, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, 46XY SEX REVERSAL 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPERPROINSULINEMIA

15

NEUROD1, STAT1, NKX2-5, TP53, PPARG, POU1F1, BMPR1B, HMGA1, ESR1, BMP4, LHX3, INS, MEF2A, PITX2, NR5A1

substrate-specific transporter activity2.34831e-072.97114

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, COCKAYNE SYNDROME, TYPE A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THYROID DYSHORMONOGENESIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, GLUCOCORTICOID DEFICIENCY 4, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

102

TSC2, CAV1, SLC5A5, PDE4D, KISS1, GNAS, AP2S1, ALDOA, TBX3, PPARG, PRKAR1A, ABCD1, ERCC8, GJA1, FGA, B2M, LIPE, NDUFB11, HNF1A, MT-CO3, AKR1C4, BMP4, CDC73, GNAI2, PTEN, SOX9, KRAS, APOA1, GLI2, SCNN1G, CLCNKA, AR, SLC39A4, CCND1, CACNA1D, FGFR1, LEP, NNT, KCNJ1, PTH, IFNG, SLC30A8, ICK, NKX2-1, GLIS3, CASR, PTPN1, TP63, INS, ABCC8, SLC12A1, TTR, KCNJ11, SLC2A2, HNF1B, SDHD, SCNN1B, SLC29A3, STAT1, SLC19A2, PITX2, KCNJ5, FOXP3, SLC16A1, TP53, PIEZO1, SLC26A4, GLI3, KISS1R, BSND, SLC37A4, ATP7B, TSHR, PEX5, ITPR3, CYC1, SLC40A1, EIF2B1, NR5A1, TGFB1, PTPN11, GATA4, GCGR, STAT3, PRKACA, CACNA1C, SLC2A4, FMR1, IL6, STAR, CACNA1S, CLCNKB, TRH, CTNS, HRAS, IRS2, CBX2, POLR3B, ESR1, PIK3R1, SLC12A3, SHH

oxidoreductase activity, acting on NAD(P)H0.003864616.6811

THRYOID DYSHORMONOGENESIS 6, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CAMURATI-ENGELMANN DISEASE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ADRENAL CORTICAL CARCINOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, GLUCOCORTICOID DEFICIENCY 4

16

MT-ND5, NDUFS1, MT-ND4, POR, TP53, BMP2, MT-ND6, MT-ND1, DUOX2, AKR1C2, BRCA1, NNT, GLUD1, TGFB1, CYC1, AKR1C4

receptor signaling protein activity1.19385e-075.7941

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, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, LEPRECHAUNISM, MULTIPLE ENDOCRINE NEOPLASIA IIB, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 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, PITUITARY ADENOMA, ACTH-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, 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, LEOPARD SYNDROME 1

32

CAV1, GNA11, BMPR1B, GNAS, TGFB1, MEF2A, PTPN11, GDNF, FGFR1, INSR, PRKACA, FLRT3, LHX3, BMP2, TP53, BTK, ESR1, AKT2, PTH, CDKN1B, RET, MAPK8IP1, HRAS, BMP4, IFNG, PTEN, ITPR3, NR3C1, STAT3, PIK3R1, GNAI2, GCGR

transmembrane signaling receptor activity5.41012e-052.85116

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, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, [PHENYLTHIOCARBAMIDE TASTING], 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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HOLOPROSENCEPHALY-9, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?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, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

106

PDE4D, CAV1, FSHB, SALL1, GP1BA, GNAS, PPARG, PRKAR1A, EIF2B2, BTK, B2M, LHCGR, FMR1, WT1, BMP4, IRS1, GHSR, GNAI2, PTEN, PTCH1, WNT7A, MTNR1B, KRAS, APOA1, GLI2, AR, IGF2, SEMA3E, RNF216, THRA, GNRHR, FGFR1, LEP, LHX3, FSHR, HLA-DQA1, CCND1, PTH, IFNG, NKX2-1, GDNF, TAS2R38, LIPC, PROKR2, TP63, SEC23B, INS, LRP6, PITX2, PAX8, GATA1, TTR, DDX3X, GJA1, IL2RA, SOX9, GHR, NEUROD1, STAT1, CASR, NFKB2, VHL, BMP2, FOXP3, VDR, HTR1A, TP53, IRS2, GLI3, KISS1R, PTPN1, PEX5, ITPR3, LYZ, STAT3, SERPINC1, SEMA3A, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, TSHR, TACR3, GCGR, PRLR, PRKACA, INSR, AKR1C2, SLC2A4, BLM, IL6, PIK3R1, STAR, TRH, RET, ABCC8, HRAS, HLA-DQB1, GNRH1, NR3C1, ESR1, PDX1, SHH

protein serine/threonine kinase activity9.73254e-053.8963

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, LIDDLE SYNDROME, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, 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, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, 46,XX SEX REVERSAL, TYPE 2, {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}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CULLER-JONES SYNDROME, WOLCOTT-RALLISON SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, PITUITARY ADENOMA, ACTH-SECRETING, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TUBEROUS SCLEROSIS-1, ATAXIA-TELANGIECTASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

59

GATA1, PLIN1, SOX9, MEF2A, CAV1, FGFR1, GJA1, TP53, TSC2, SCNN1G, NR3C1, AR, TGFB1, MAPK8IP1, ATM, AP2S1, ERCC3, DDX3X, EIF2AK3, CTDP1, NFKB2, SPRY4, STAT3, PRKACA, BMP2, PRKAR1A, BRCA1, BTK, LIPE, DYRK1B, VDR, NEUROD1, GLI2, STK11, SLC2A4, CCND1, CDKN1B, STAT1, ICK, GATA4, LHX4, POLD1, PTEN, HRAS, ITCH, PTPN1, ESR1, IRS1, AKT2, BMPR1B, TSC1, TP63, DUSP6, SHH, GNAI2, INS, LRP6, POLR3B, PIK3R1

ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity0.0001754057.819

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, PREMATURE OVARIAN FAILURE 7, THYROID HORMONE RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLUCOCORTICOID RESISTANCE, 46XY SEX REVERSAL 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM

13

VDR, THRA, GNAI2, CCND1, NR0B1, PPARG, ESR1, HNF4A, STAT3, NR3C1, AR, THRB, NR5A1

transporter activity2.3468e-062.67127

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, COCKAYNE SYNDROME, TYPE A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ENDOCRINE-CEREBROOSTEODYSPLASIA, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IC, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, 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, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THYROID DYSHORMONOGENESIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, CULLER-JONES SYNDROME, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, 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, HEMOCHROMATOSIS, TYPE 4, BARTTER SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, GLUCOCORTICOID DEFICIENCY 4, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

115

TSC2, CAV1, SLC5A5, PDE4D, KISS1, GNAS, AP2S1, ALDOA, TBX3, PPARG, PRKAR1A, ABCD1, ERCC8, GJA1, FGA, B2M, LIPE, NDUFB11, HNF1A, MT-CO3, AKR1C4, BMP4, CDC73, IRS1, WFS1, GNAI2, PTEN, SOX9, KRAS, APOA1, GLI2, SCNN1G, CLCNKA, AR, SLC39A4, CCND1, CACNA1D, FGFR1, LEP, NNT, IFNG, KCNJ1, PTH, NR0B1, SLC30A8, ICK, NKX2-1, GLIS3, IL6, CASR, PTPN1, TP63, INS, LRP6, SLC12A1, TTR, KCNJ11, SLC2A2, IL2RA, HNF1B, HNF4A, SDHD, SCNN1B, SLC29A3, STAT1, SLC19A2, PITX2, KCNJ5, FOXP3, SLC16A1, VDR, TP53, PIEZO1, SLC26A4, GLI3, KISS1R, BSND, SLC37A4, ATP7B, TSHR, PEX5, ITPR3, CYC1, NRAS, SLC40A1, EIF2B1, NR5A1, TGFB1, IGF2, PTPN11, ATM, GATA4, EIF2AK3, GCGR, STAT3, PRKACA, CACNA1C, SLC2A4, BLM, CBX2, STAR, CACNA1S, CLCNKB, TRH, CTNS, ABCC8, HRAS, IRS2, POLR3B, STX16, NR3C1, ESR1, PIK3R1, SLC12A3, SHH

repressing transcription factor binding0.02176487.4112

AXENFELD-RIEGER SYNDROME, TYPE 1, BARDET-BIEDL SYNDROME 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, TIMOTHY SYNDROME, ADRENAL CORTICAL CARCINOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS

12

NEUROD1, MAX, GATA6, CCND1, TP53, OTX2, STUB1, CACNA1C, STAT3, MKKS, PRDM5, TCF7L2

coreceptor activity0.0001320928.0912

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}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CAMURATI-ENGELMANN DISEASE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, BANNAYAN-RILEY-RUVALCABA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR

12

B2M, PTH, GCGR, PTEN, IGSF1, BMP4, BMPR1B, BMP2, SHH, LRP6, TGFB1, HFE2

antioxidant activity0.0001560197.0118

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [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}, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 4, HYPERPROINSULINEMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA

15

ATM, APOA1, TTR, IL6, PIK3R1, TP53, PPARG, LEP, INS, BMP2, DUOX2, HRAS, IYD, TANGO2, TPO

steroid dehydrogenase activity0.0007673398.4611

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME 1, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CAMURATI-ENGELMANN DISEASE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, CHILD SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

10

HSD11B1, HSD17B4, SRD5A2, HSD17B3, AKR1C4, SRD5A3, MSMO1, TGFB1, NSDHL, HSD3B2

kinase inhibitor activity1.12157e-066.9726

{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, CAMURATI-ENGELMANN DISEASE, BECKWITH-WIEDEMANN SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

18

ATM, BMP4, DNAJC3, CDKN1B, MAPK8IP1, STAT1, PRKACA, ESR1, PRKAR1A, BTK, BRCA1, INS, STAT3, LRP6, TGFB1, CDKN1C, HRAS, INSR

endopeptidase regulator activity6.37605e-055.2141

HARTSFIELD SYNDROME, [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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

34

FGA, SERPINC1, TTR, FGFR1, APOA1, IGF2, ANOS1, STAT1, CCND1, CASR, TGFB1, PITX2, VHL, BMP2, LEP, TP53, PCSK1, ESR1, B2M, SPINK1, IL2RA, CDKN1B, IL6, BMP4, TSHR, FANCA, GNRH1, PTEN, STAT3, PIK3R1, INS, LRP6, AVP, SHH

peptidase regulator activity2.15373e-064.950

HARTSFIELD SYNDROME, [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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED 102, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

42

PCSK1, SERPINC1, TTR, CAV1, FGFR1, APOA1, IGF2, ANOS1, STAT1, ERCC3, DDX3X, CASR, TGFB1, PITX2, VHL, INSR, LEP, PRKAR1A, BMP2, TP53, FGA, ESR1, B2M, CCND1, SPINK1, PTH, IL2RA, CDKN1B, IL6, PTEN, BMP4, FANCA, TSHR, GNRH1, IRS1, STAT3, SHH, LYZ, INS, LRP6, AVP, PIK3R1

ion channel activity0.00187824.3251

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?PRECOCIOUS PUBERTY, CENTRAL, 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}, HYPERPARATHYROIDISM 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, SHORT SYNDROME, 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, BARTTER SYNDROME, TYPE 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, CAMURATI-ENGELMANN DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, FRAGILE X TREMOR/ATAXIA SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, RENAL CYSTS AND DIABETES SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

44

TSC2, CAV1, KRAS, APOA1, PDE4D, HNF1B, CLCNKA, KCNJ5, EIF2B1, SCNN1B, TGFB1, PTPN11, KCNJ11, CASR, CACNA1D, PRKACA, CACNA1C, HRAS, KISS1R, IFNG, CCND1, B2M, KCNJ1, FMR1, PIEZO1, CACNA1S, NKX2-1, GLIS3, SCNN1G, TP53, BSND, GJA1, CDC73, PTPN1, PTEN, ITPR3, CLCNKB, STAT3, GNAI2, INS, TRH, ABCC8, PEX5, PIK3R1

nucleoside-triphosphatase activity0.03832613.3587

{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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, WILSON DISEASE, SHORT SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED 102, KENNY-CAFFEY SYNDROME, TYPE 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, CARPENTER SYNDROME, PERRAULT SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, PREMATURE OVARIAN FAILURE 9, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 4, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, PEROXISOME BIOGENESIS DISORDER 2B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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

69

PEX5, TSC2, HSD17B4, CAV1, GNA11, KRAS, APOA1, LMNA, HNF1B, CNBP, PTEN, NR3C1, EIF2B1, AR, WRN, TGFB1, GNAS, ENTPD1, ATM, STAT1, ERCC3, CHD7, CASR, HFM1, APPL1, SMARCAL1, TBCE, IRS2, MCM9, PRKAR1A, ABCD1, HARS2, RECQL4, BMP2, FMR1, BLM, ESR1, B2M, MCM4, C10orf2, CCND1, RAB23, CDKN1B, KIF1B, DICER1, AP2S1, FANCM, IL6, TP53, EIF2B2, HRAS, DDX3X, ATP7B, FANCA, DNAJC3, IFNG, PEX1, POLR3B, BMPR1B, GNRH1, STAT3, KIF7, MCM8, GNAI2, INS, ABCC8, NONO, PIK3R1, PCNT

signaling receptor activity8.41176e-092.68133

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, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, LARON DWARFISM, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOPARATHYROIDISM IA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HOLOPROSENCEPHALY-9, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, FRAGILE X TREMOR/ATAXIA SYNDROME, 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, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?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, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

127

PDE4D, CAV1, IGSF1, FSHB, SALL1, GP1BA, SEMA3E, TCF7L2, TBX3, PPARG, PRKAR1A, EIF2B2, BTK, FGA, B2M, LHCGR, FMR1, WT1, BMP4, SIX3, IRS1, NRAS, GHSR, GATA3, GNAI2, THRB, PEX5, PTCH1, WNT7A, MTNR1B, KRAS, APOA1, GLI2, NKX2-5, AR, IGF2, GNAS, RNF216, THRA, GNRHR, FGFR1, HMGA1, PTH, LEP, LHX3, CDKN1B, FSHR, HLA-DQA1, CCND1, CEL, IFNG, NKX2-1, MEN1, GDNF, TAS2R38, LIPC, PROKR2, TP63, SEC23B, INS, LRP6, NFKB2, PAX8, GATA1, TTR, DDX3X, GJA1, IL2RA, SOX9, GHR, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, VDR, HTR1A, TP53, IRS2, GLI3, KISS1R, PTPN1, PTEN, ITPR3, HAMP, GNRH1, LYZ, STAT3, SERPINC1, SEMA3A, STUB1, RETN, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, ATM, TSHR, KMT2D, TACR3, GCGR, PRLR, PRKACA, INSR, AKR1C2, SLC2A4, BLM, IL6, PIK3R1, STAR, TRH, RET, MEF2A, ABCC8, HRAS, HLA-DQB1, NR0B1, PDX1, NR3C1, ESR1, HFE2, HFE, SHH

core promoter binding9.8043e-136.2137

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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}, 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, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ESTROGEN RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

33

PTCH1, SOX9, SOX2, HNF4A, PTRF, MEF2A, TCF7L2, NEUROD1, STAT1, CYP11B2, CCND1, PPARG, ESR1, SOX3, BRCA1, CDKN1B, CBX2, TP53, WT1, BMP4, NKX2-1, IL6, GLI3, NEUROG3, GATA6, MAX, ITCH, NONO, STAT3, GATA3, PAX8, INS, PDX1

core promoter sequence-specific DNA binding1.72739e-056.8923

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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}, 46,XX SEX REVERSAL, TYPE 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ESTROGEN RESISTANCE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY

18

MAX, PAX8, ITCH, CYP11B2, TP53, PPARG, STAT1, HNF4A, SOX3, PTCH1, ESR1, GATA3, TCF7L2, SOX9, INS, MEF2A, PDX1, GATA6

HMG box domain binding0.02920599.036

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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR

6

BMP4, GATA4, GATA3, TCF7L2, MEF2A, SHH

RNA polymerase II core promoter proximal region sequence-specific DNA binding2.42181e-155.1661

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, MODY, TYPE I, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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}, 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, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, 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, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, DIGEORGE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PANHYPOPITUITARISM, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, PALLISTER-HALL SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, VELOCARDIOFACIAL SYNDROME, PREMATURE OVARIAN FAILURE 5, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ATAXIA-TELANGIECTASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

51

GATA1, SOX9, MEN1, SOX2, NKX2-5, NR3C1, AR, IGF2, TGFB1, GLI3, TCF7L2, ATM, STAT1, TBX3, GDNF, TBX19, PITX2, PPARG, ESR1, SOX3, NSD1, OTX2, BMP4, LHX3, NEUROD1, BRCA1, CCND1, TP53, FEZF1, GATA4, NKX2-1, HNF4A, GLIS3, RET, NR5A1, MEF2A, NEUROG3, MAX, SIX3, CNBP, PDX1, NONO, SALL1, BMPR1B, STAT3, PAX8, TBX1, INS, NOBOX, PTEN, SHH

ligase activity, forming aminoacyl-tRNA and related compounds0.02383837.937

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ?PERRAULT SYNDROME 2, PERRAULT SYNDROME 4, INTERSTITIAL LUNG AND LIVER DISEASE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25

7

MARS2, IARS2, LARS2, SARS2, MARS, AARS2, HARS2

SMAD binding0.009298047.117

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPERPARATHYROIDISM 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}, MULTIPLE ENDOCRINE NEOPLASIA 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CAMURATI-ENGELMANN DISEASE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ADRENAL CORTICAL CARCINOMA

14

VDR, GATA4, AR, TP53, NKX2-5, STUB1, BMP2, USP9X, BMPR1B, MEN1, MEF2A, TGFB1, PTEN, TCF7L2

protein heterodimerization activity6.20615e-143.65102

{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, COCKAYNE SYNDROME, TYPE A, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FANCONI ANEMIA, COMPLEMENTATION GROUP E, 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}, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, VELOCARDIOFACIAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, LUSCAN-LUMISH SYNDROME, TIMOTHY SYNDROME, DIGEORGE SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, 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, 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}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, 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, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, 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

TSC2, PDE4D, SALL1, GNAS, NRXN1, FANCE, PPARG, OTX2, PRKAR1A, ERCC8, BTK, FGA, B2M, FANCM, BMP4, CDC73, GHSR, GNAI2, ARNT2, SOX9, SOX2, APOA1, NKX2-5, AR, TCF7L2, THRA, LEP, AKT2, FSHR, CCND1, PTH, IFNG, NKX2-1, MEN1, MAX, FANCA, TP63, TBX1, INS, LRP6, GATA1, TTR, DDX3X, GJA1, HNF1B, RAB3GAP2, SETD2, ARX, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, KRAS, VDR, TP53, GLI3, CDKN1C, HNF1A, PTEN, TAF4B, LYZ, POLR3A, STUB1, NR5A1, TGFB1, PTPN11, ATM, GATA4, NSD1, APPL1, STAT3, PRKACA, CACNA1C, BLM, IL6, PIK3R1, STAR, TRH, RET, MEF2A, HRAS, POLG, GNRH1, NR3C1, ESR1, PDX1, SHH

triglyceride lipase activity0.01938949.119

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, {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}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA

6

LEP, CEL, LIPE, PNPLA2, LIPC, INS

growth factor receptor binding0.0001168185.9931

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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, LIPOID ADRENAL HYPERPLASIA, AXENFELD-RIEGER SYNDROME, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

25

GJA1, STUB1, TGFB1, PTPN11, PITX2, FGFR1, INSR, LEP, FGF17, BMP2, CDKN1B, IL6, PTH, STAR, RET, HRAS, IRS2, PTPN1, IRS1, ESR1, GATA3, INS, STAT3, PTEN, SHH

sequence-specific DNA binding transcription factor activity7.18559e-162.75156

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, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, 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, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PREMATURE OVARIAN FAILURE 5, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL 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, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, BAMFORTH-LAZARUS SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HOLOPROSENCEPHALY-9, DIGEORGE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, 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}, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PANCREATIC AGENESIS 2, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, PENDRED SYNDROME, ESTROGEN RESISTANCE

138

LMNA, PLAGL1, CNBP, GNAS, TBX19, CYP11B2, ALDOA, TBX3, PPARG, SOX2, OTX2, FOXI1, ERCC8, PROP1, BTK, LHCGR, AKT2, ZBTB20, FMR1, WT1, SIX3, NBN, NEUROG3, BMP4, CDC73, IRS1, SALL1, POU1F1, GATA3, GNAI2, THRB, NONO, ARNT2, PTCH1, SOX9, CHD7, KRAS, HTR1A, GLI2, FOXL2, NKX2-5, HAMP, AR, IGF2, TCF7L2, THRA, PTF1A, IL6, SOX3, HMGA1, LEP, LHX3, STAR, CCND1, PTH, NR0B1, ICK, AIP, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, MAX, IFNG, TP63, DUSP6, TBX1, INS, NOBOX, NFKB2, PAX8, GATA1, TTR, DDX3X, GJA1, HNF1B, ARX, GHR, NEUROD1, STAT1, CASR, PITX2, VHL, HNF4A, BMP2, FOXP3, BRCA1, NDN, RSPO1, VDR, TP53, GLI3, CDKN1C, HNF1A, PTEN, GH1, PAX4, TAF4B, ITCH, AIRE, PCSK1, HESX1, POLR3A, HDAC8, STUB1, NR3C1, STK11, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA6, KMT2D, NSD1, STAT3, FOXE1, CBX2, PIK3R1, CDKN1B, FOXD3, GATA4, TRH, RET, ERCC3, MEF2A, HRAS, IRS2, WNT4, GNRH1, POLR3B, STX16, BMPR1B, ESR1, PDX1, DICER1, SHH

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity3.93142e-156.1244

PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, DIGEORGE SYNDROME, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, FRASIER SYNDROME, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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}, 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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, VELOCARDIOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, HOLOPROSENCEPHALY-2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {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}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

36

SOX9, SOX2, HNF1B, NKX2-5, AR, NR5A1, TGFB1, MEF2A, PTPN11, NEUROD1, GATA6, GDNF, PITX2, PPARG, ESR1, HNF4A, OTX2, FOXP3, BMP4, LHCGR, CCND1, PTH, TP53, WT1, GATA4, NKX2-1, RET, ARX, SIX3, HNF1A, SALL1, PAX4, STAT3, TBX1, INS, SHH

steroid hormone receptor activity0.0001497817.5919

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ESTROGEN RESISTANCE, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, PREMATURE OVARIAN FAILURE 7, THYROID HORMONE RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, GLUCOCORTICOID RESISTANCE, 46XY SEX REVERSAL 3, KABUKI SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM

13

VDR, THRA, KMT2D, GNAI2, CCND1, NR0B1, PPARG, HNF4A, ESR1, NR3C1, AR, THRB, NR5A1

transmembrane transporter activity1.40883e-053.195

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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, COCKAYNE SYNDROME, TYPE A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THYROID DYSHORMONOGENESIS 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, 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}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BARTTER SYNDROME, TYPE 3, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, GLUCOCORTICOID DEFICIENCY 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?46XY SEX REVERSAL 5, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

91

TSC2, CAV1, SLC5A5, PDE4D, KISS1, KCNJ11, TBX3, PPARG, PRKAR1A, ABCD1, ERCC8, GJA1, FGA, B2M, NDUFB11, HNF1A, MT-CO3, AKR1C4, BMP4, CDC73, GNAI2, PEX5, KRAS, APOA1, SCNN1G, CLCNKA, AR, SLC39A4, CCND1, CACNA1D, FGFR1, LEP, NNT, KCNJ1, PTH, IFNG, SLC30A8, ICK, NKX2-1, GLIS3, CASR, PTPN1, TP63, INS, ABCC8, SLC12A1, ALDOA, SLC2A2, IL2RA, HNF1B, SDHD, SCNN1B, SLC29A3, STAT1, SLC19A2, PITX2, KCNJ5, SLC16A1, TP53, PIEZO1, SLC26A4, KISS1R, BSND, SLC37A4, ATP7B, TSHR, PTEN, ITPR3, SLC40A1, EIF2B1, TGFB1, PTPN11, GATA4, STAT3, PRKACA, CACNA1C, SLC2A4, IL6, STAR, CACNA1S, CLCNKB, TRH, CTNS, HRAS, IRS2, CBX2, CYC1, ESR1, GCGR, SLC12A3, PIK3R1

peptidase activity, acting on L-amino acid peptides0.04160923.4669

MULLERIAN APLASIA AND HYPERANDROGENISM, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, 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}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, JOHANSON-BLIZZARD SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, PERRAULT SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MENTAL RETARDATION, X-LINKED 102, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VON WILLEBRAND DISEASE, PLATELET-TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, PERRAULT SYNDROME 5, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FUHRMANN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PALLISTER-HALL SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, 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}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, SERKAL SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

68

FGA, SOX9, MEF2A, CUL4B, AR, CAV1, APPL1, TP53, SERPINC1, GNRH1, PTEN, CAPN10, GP1BA, IGF2, TGFB1, CTNS, UBR1, PPARG, PCSK1, STAT1, ERCC3, DDX3X, SIL1, CCND1, VHL, BMP2, USP9X, FXN, LEP, ESR1, CLPP, BRCA1, WNT7A, DNAJC3, CDKN1B, VDR, PAX8, B2M, C10orf2, HADH, PTH, FMR1, BMP4, ZMPSTE24, TRH, WNT4, HLA-DQA1, IL6, GLI3, LRP6, HRAS, ITCH, HNF1A, PTPN1, TSHR, IFNG, USP8, HAMP, IRS2, STAT3, SHH, LYZ, SLC2A4, INS, HFE, NDUFS1, IRS1, PIK3R1

double-stranded DNA binding2.43957e-105.8738

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ATAXIA-TELANGIECTASIA, CULLER-JONES SYNDROME, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FRASIER SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, HOLOPROSENCEPHALY-9, 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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, 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, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PREMATURE OVARIAN FAILURE 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, BAMFORTH-LAZARUS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

35

SOX9, SOX2, TP53, HTR1A, PAX4, AR, NR5A1, TCF7L2, ATM, STAT1, IL6, PPARG, STAT3, HMGA1, IFNG, VDR, NEUROD1, CCND1, FOXD3, CDKN1B, WT1, NKX2-1, MEN1, PTEN, NEUROG3, MAX, IRS2, ESR1, GLI2, BMPR1B, TP63, FOXE1, INS, NONO, SHH

protein-hormone receptor activity1.19477e-059.9112

HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, BANNAYAN-RILEY-RUVALCABA SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

8

FSHR, LHCGR, GNRHR, TSHR, PTEN, NKX2-1, CASR, PAX8