ENDOCRINE FEATURES

TermP valueIC# diseasesdiseases# genesgenes
GAB1 signalosome0.02734645.3524

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

19

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, GDNF, TGFB1, IRS1, HRAS, INSR

Developmental Biology5.11188e-132.04135

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, 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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PANHYPOPITUITARISM, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {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, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AND CEREBELLAR AGENESIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PITUITARY DEPENDENT HYPERCORTISOLISM, VELOCARDIOFACIAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, DIGEORGE SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, ?CHARGE SYNDROME, CHARGE SYNDROME, HEMOCHROMATOSIS TYPE 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, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PANCREATIC AGENESIS 2, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

126

PDE4D, CAV1, SPRY4, CNBP, SOX3, SEMA3E, TBX19, GLI3, AP2S1, PPARG, OTX2, PRKAR1A, EIF2B2, GJA1, BTK, FGA, B2M, AKT2, PNPLA2, NEUROG3, BMP4, CDC73, POR, IRS1, HLA-DQA1, GLI2, PTCH1, WNT7A, SOX2, APOA1, SCNN1G, NKX2-5, PAX4, AR, IGF2, GNAS, TCF7L2, PTF1A, CCND1, CACNA1D, FGFR1, BLK, HMGA1, LEP, LHX3, STAR, FSHR, HS6ST1, PTH, NKX2-1, SOX9, GLUD1, GDNF, PTPN1, STAT3, DUSP6, TBX1, INS, LRP6, GCK, PAX8, PLIN1, KCNJ11, SLC2A2, IL2RA, SHOC2, HNF1B, USP9X, NEUROD1, STAT1, CASR, CTDP1, NFKB2, VHL, HNF4A, BMP2, BRCA1, KRAS, VDR, TP53, MAPK8IP1, FGF17, ITCH, HNF1A, PTEN, ITPR3, HAMP, IL17RD, LYZ, AGPAT2, AIP, NRAS, SEMA3A, STUB1, BMPR1B, NR5A1, TGFB1, PTPN11, ATM, GATA4, GCGR, APPL1, ESR1, PRKACA, CACNA1C, INSR, SLC2A4, PITX2, IL6, PIK3R1, CDKN1B, FOXD3, GATA6, CACNA1S, RET, ERCC3, MEF2A, HRAS, IRS2, GNRH1, PDX1, POLR3B, NR3C1, TSC1, HFE2, SHH

IRS activation0.0056250910.668

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LEPRECHAUNISM, HYPERPROINSULINEMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5

4

INS, IRS2, INSR, IRS1

Cytochrome P450 - arranged by substrate type2.17311e-056.1824

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, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SHORT 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, TUBEROUS SCLEROSIS 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY

18

VDR, CYP27B1, CYP11B1, CYP11B2, IL6, POR, PTH, IFNG, CYP21A2, LEP, NR3C1, GATA4, CYP17A1, ESR1, GNRH1, INS, NR5A1, PIK3R1

Signaling by VEGF0.008843553.4950

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {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, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

46

NRAS, CAV1, FGFR1, KRAS, IL2RA, SHOC2, IGF2, TGFB1, MAPK8IP1, PTPN11, INSR, STAT1, IL6, GDNF, NFKB2, SPRY4, STAT3, PRKACA, LEP, PRKAR1A, AKT2, BMP2, GJA1, IL17RD, FGA, ESR1, FGF17, CCND1, PTH, CDKN1B, RET, GLUD1, MEF2A, TP53, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, INS, PTEN, PIK3R1

IRS-mediated signalling1.95651e-053.7150

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

48

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, KRAS, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, STRADA, SHOC2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, CDC73, PTPN1, IRS1, TSC1, DUSP6, SHH, SLC2A4, INS, PTEN, PIK3R1

Peptide hormone biosynthesis6.94394e-058.7310

HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OVARIAN DYSGENESIS 1, HYPERTHYROIDISM, NONAUTOIMMUNE, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, 46XY SEX REVERSAL 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

8

PCSK1, FSHB, TSHR, TSHB, TP53, LHB, FSHR, NR5A1

VEGFA-VEGFR2 Pathway0.0304443.5645

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, 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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {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, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

43

NRAS, CAV1, FGFR1, KRAS, IL2RA, SHOC2, IGF2, TGFB1, MAPK8IP1, PTPN11, STAT1, LEP, GDNF, NFKB2, SPRY4, TSC1, PRKACA, INSR, FGF17, GJA1, IL17RD, FGA, ESR1, AKT2, CCND1, PTH, CDKN1B, BMP4, GLUD1, MEF2A, TP53, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, STAT3, DUSP6, SHH, INS, PTEN, PIK3R1

Inhibition of TSC complex formation by PKB0.035458311.43

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

3

TSC2, TSC1, AKT2

Class A/1 (Rhodopsin-like receptors)1.58034e-054.1944

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, LEPRECHAUNISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PANCREATIC AGENESIS 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CAMURATI-ENGELMANN DISEASE, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, 46XY SEX REVERSAL 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE 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}, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

39

FSHB, MTNR1B, LHB, KISS1, SALL1, NR3C1, EIF2B1, NR5A1, TGFB1, PTPN11, GNRHR, LEP, AVP, PPARG, GHSR, INSR, FOXP3, KISS1R, CDKN1B, ESR1, FSHR, LHCGR, IL6, HTR1A, IFNG, TRH, POU1F1, TACR3, TP53, HRAS, TSHB, TSHR, GNRH1, PROKR2, STAT3, GNAI2, PROK2, TAC3, PDX1

Metabolism of proteins1.7617e-052.11109

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, 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, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, 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, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WERNER SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?HYPERPROLACTINEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, KENNY-CAFFEY SYNDROME, TYPE 1, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, ?46XY SEX REVERSAL 5, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

103

TSC2, CAV1, FSHB, GP1BA, GNAS, PMM2, PPARG, EIF2B2, BTK, B2M, LHCGR, WT1, BMP4, CDC73, DIS3L2, WFS1, GNAI2, CUL7, SHOC2, SRD5A3, GH1, KRAS, EIF2B4, AR, MPI, IGF2, TCF7L2, ERCC3, CBX2, LEP, LMNA, AKT2, STAR, FSHR, CCND1, PTH, IFNG, SLC30A8, NKX2-1, MEN1, MAX, FANCA, AAAS, TP63, INS, CP, DDX3X, GJA1, SDHD, TSHB, STAT1, CASR, NFKB2, VHL, TG, BMP2, BRCA1, NDN, VDR, TP53, KISS1R, HNF1A, TSHR, SIL1, PTEN, XRCC4, HAMP, STAT3, PCSK1, SERPINC1, EIF2B5, IGF2BP2, LHB, RETN, EIF2B1, NR5A1, TGFB1, WRN, PTPN11, ATM, GATA4, EIF2AK3, APPL1, PRLR, TBCE, FXN, INSR, EIF2B3, BLM, IL6, CDKN1B, GMPPA, TRH, HRAS, IRS2, DNAJC3, GNRH1, CYC1, NR3C1, ESR1, PIK3R1, HFE, SHH

Signaling by FGFR1 in disease0.002511726.8511

SHORT SYNDROME, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ESTROGEN RESISTANCE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

12

NRAS, KRAS, LEP, IRS1, STAT1, FGFR1, STAT3, ESR1, PIK3R1, FGF17, SOX2, HRAS

Phase 1 - Functionalization of compounds7.92995e-055.6328

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, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, TUBEROUS SCLEROSIS 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY

21

VDR, CYP27B1, BMP4, CYP11B2, IL6, POR, PTH, IFNG, CYP21A2, LEP, NR3C1, GATA4, CYP17A1, ESR1, GNRH1, CYP11B1, AR, INS, NR5A1, PIK3R1, GATA6

Androgen biosynthesis0.0002694318.528

PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, OVARIAN DYSGENESIS 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

8

FSHR, SRD5A2, LHB, HSD17B3, SRD5A3, CYP17A1, MSMO1, HSD3B2

Signaling by EGFR0.0003374963.4460

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {HASHIMOTO THYROIDITIS}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, INSR, AP2S1, LEP, GDNF, NFKB2, SPRY4, STAT3, PRKACA, OTX2, FOXP3, AKT2, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, FGF17, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, PTEN, PIK3R1

Class B/2 (Secretin family receptors)4.40637e-055.5633

MULLERIAN APLASIA AND HYPERANDROGENISM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CULLER-JONES SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-9, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HOLOPROSENCEPHALY-7, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, FUHRMANN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SERKAL SYNDROME

22

PTCH1, WNT7A, GNAS, TBX19, WNT3, TCF7L2, GATA4, CASR, BMP2, OTX2, CCND1, PTH, GDNF, GLI3, PTEN, BMP4, WNT4, SHH, GNAI2, LRP6, GLI2, GCGR

G alpha (q) signalling events5.27936e-054.6738

?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

31

GNA11, KRAS, KISS1, PROKR2, EIF2B1, NR5A1, GNAS, PTPN11, GNRHR, AVP, SPRY4, STAT3, CASR, KISS1R, GJA1, IL6, PTH, TP53, TRH, HRAS, TACR3, TSHR, GNRH1, ITPR3, EIF2B4, GHSR, PIK3R1, GNAI2, PROK2, TAC3, GCGR

PI-3K cascade:FGFR30.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

DAP12 interactions0.0009988183.3959

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PITUITARY ADENOMA, ACTH-SECRETING, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, 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, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, TUBEROUS SCLEROSIS-1, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, FGFR1, KRAS, APOA1, NRAS, AR, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, BTK, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Mineralocorticoid biosynthesis5.67106e-059.289

MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, 46XY SEX REVERSAL 3, OVARIAN DYSGENESIS 1

7

FSHR, CYP11B2, LHB, CYP21A2, MSMO1, NR5A1, HSD3B2

Downstream signaling of activated FGFR40.0003317473.5356

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

48

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

SHC-mediated cascade:FGFR40.005129738.037

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}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

8

NRAS, IRS1, FGFR1, LEP, PTPN11, FGF17, KRAS, HRAS

VEGFR2 mediated cell proliferation0.03243093.9836

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

35

NRAS, FGFR1, KRAS, IL2RA, SHOC2, IGF2, TGFB1, PTPN11, IL6, NFKB2, SPRY4, INSR, LEP, FGF17, GJA1, IL17RD, FGA, ESR1, CCND1, PTH, CDKN1B, BMP4, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, PTPN1, IRS1, ITPR3, STAT3, DUSP6, PIK3R1, INS, SHH

Phospholipase C-mediated cascade; FGFR21.01676e-056.4124

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MICROPHTHALMIA, SYNDROMIC 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

16

BMP4, FGFR1, FGF17, IL6, PTH, APOA1, GJA1, ITPR3, PRKACA, ESR1, PRKAR1A, GNAI2, DUSP6, GNAS, IRS1, HRAS

Phospholipase C-mediated cascade; FGFR30.01372976.6220

HYPOPARATHYROIDISM FAMILIAL ISOLATED, MICROPHTHALMIA, SYNDROMIC 6, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

11

BMP4, FGF17, PTH, FGFR1, GJA1, ITPR3, PRKACA, PRKAR1A, GNAI2, DUSP6, GNAS

Phospholipase C-mediated cascade; FGFR40.003629516.5721

HYPOPARATHYROIDISM FAMILIAL ISOLATED, MICROPHTHALMIA, SYNDROMIC 6, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARNEY COMPLEX, TYPE 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 2 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}

12

BMP4, FGF17, PTH, FGFR1, GJA1, ITPR3, PRKACA, PRKAR1A, GNAI2, DUSP6, GNAS, IRS1

PI3K events in ERBB2 signaling0.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Endogenous sterols0.02600497.3712

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 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, PREMATURE OVARIAN FAILURE 7, 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

9

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

Downstream signal transduction0.0005413753.4657

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, STAT1, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

G alpha (s) signalling events4.01479e-075.3340

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, LEPRECHAUNISM, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, CAMURATI-ENGELMANN DISEASE, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

27

FSHB, LHB, PDE4D, GNAS, TGFB1, LEP, AVP, PPARG, POU1F1, PDE11A, INSR, FOXP3, VDR, FSHR, LHCGR, CCND1, PTH, APOA1, TRH, TSHR, TSHB, GNRH1, NR3C1, ESR1, GNAI2, INS, GCGR

Nuclear Receptor transcription pathway0.002810327.117

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, GLUCOCORTICOID RESISTANCE, 46XY SEX REVERSAL 3, 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

11

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

Disease2.1067e-101.96132

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, 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, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, {HASHIMOTO THYROIDITIS}, KOWARSKI SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, 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, ?PERRAULT SYNDROME 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LUSCAN-LUMISH SYNDROME, TIMOTHY SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, 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, ?TETRA-AMELIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERRAULT SYNDROME 5, CORNELIA DE LANGE SYNDROME 5, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, 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, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, 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, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

125

TSC2, SALL1, SRD5A3, GNAS, TBX19, AP2S1, CYP11B2, PMM2, PPARG, MARS, HARS2, BTK, FGA, B2M, FGF17, CYP11B1, PPP1R15B, MARS2, BMP4, CDC73, POR, IRS1, GNAI2, USP8, WNT7A, CHD7, GH1, SOX2, APOA1, FOXL2, AR, MPI, IGF2, TCF7L2, THRA, ERCC3, CCND1, FGFR1, HMGA1, LEP, AKT2, CDKN1B, NEUROD1, FSHR, KCNJ1, PTH, IFNG, AAAS, MEN1, IL6, GLUD1, MAX, TSHR, CYP21A2, PAPSS2, TP63, DUSP6, INS, LRP6, PITX2, GATA1, TTR, DDX3X, GJA1, SHOC2, SETD2, SDHD, CYP27B1, STAT1, CASR, CTDP1, NFKB2, SOX9, VHL, HNF4A, BMP2, FOXP3, DNAJC3, KRAS, VDR, NDUFS1, HTR1A, TP53, POLD1, CDKN1C, HNF1A, FANCA, PTEN, XRCC4, GNRH1, TAF4B, LYZ, NRAS, POLR3A, HDAC8, NR5A1, TGFB1, WNT3, PTPN11, ATM, GATA4, GCGR, STAT3, PRKACA, CACNA1C, INSR, RNF216, SLC2A4, CBX2, STAR, GATA6, CTLA4, HRAS, IRS2, SARS2, NR0B1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, C10orf2, CYP17A1, HFE, SHH

Downstream signaling of activated FGFR30.0003317473.5356

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

48

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Signaling by FGFR in disease0.002395226.6211

SHORT SYNDROME, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ESTROGEN RESISTANCE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

13

NRAS, KRAS, IL6, IRS1, STAT1, FGFR1, LEP, ESR1, PIK3R1, FGF17, STAT3, SOX2, HRAS

Integration of energy metabolism1.5618e-055.0939

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}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HYPERPROINSULINEMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PEUTZ-JEGHERS SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

26

KCNJ11, SLC2A2, GNAS, TCF7L2, CASR, CACNA1D, GNA11, PRKACA, CACNA1C, PRKAR1A, SLC2A4, FOXP3, KISS1R, KRAS, STK11, CCND1, TP53, TRH, HRAS, ITPR3, ESR1, GNAI2, INS, GLIS3, ABCC8, GCGR

TCF dependent signaling in response to WNT8.42931e-064.2945

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}, IMAGE SYNDROME, HYPERPARATHYROIDISM 1, ?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}, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPERTHYROIDISM, NONAUTOIMMUNE, KABUKI SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, FRASIER SYNDROME, SERKAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

37

SOX9, CAV1, SOX2, FOXL2, NKX2-5, PRKACA, AR, WNT3, TCF7L2, KMT2D, CASR, PITX2, BMP2, SOX3, OTX2, AKT2, RSPO1, FSHR, CCND1, PTH, TP53, WT1, BMP4, MEN1, GLI3, PTEN, MAX, CDKN1C, CDC73, SIL1, TSHR, USP8, ESR1, PAX8, LRP6, WNT4, SHH

NGF signalling via TRKA from the plasma membrane0.0001980313.2763

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {HASHIMOTO THYROIDITIS}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

55

TSC2, VHL, KRAS, APOA1, NRAS, PLAGL1, IGF2, TGFB1, MAPK8IP1, PTPN11, INSR, AP2S1, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, BMP4, AKT2, PRKAR1A, GJA1, IL17RD, FGA, ESR1, FSHR, FGFR1, B2M, FGF17, CCND1, PTH, IL2RA, CDKN1B, STAT1, GNAS, SHOC2, GLUD1, MEF2A, TP53, CTLA4, HRAS, IRS2, PTPN1, GNRH1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, PTEN, PIK3R1

Signaling by Wnt3.2099e-063.5267

MULLERIAN APLASIA AND HYPERANDROGENISM, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMAGE SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPERPARATHYROIDISM 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PLEUROPULMONARY BLASTOMA, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ATAXIA-TELANGIECTASIA, MICROPHTHALMIA, SYNDROMIC 6, 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, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, 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, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, FUHRMANN SYNDROME, PANHYPOPITUITARISM, X-LINKED, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OVARIAN DYSGENESIS 1, PITUITARY ADENOMA, ACTH-SECRETING, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, ESTROGEN RESISTANCE, HYPERTHYROIDISM, NONAUTOIMMUNE, KABUKI SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, FRASIER SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SERKAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

53

SOX9, MTNR1B, CAV1, SHH, SOX2, WNT7A, FOXL2, NKX2-5, PRKACA, AR, WNT3, GDNF, TCF7L2, ATM, AP2S1, KMT2D, CASR, DICER1, BMP2, SOX3, OTX2, BMP4, AKT2, PITX2, RSPO1, FSHR, LHCGR, BRCA1, CCND1, PTH, TP53, WT1, GATA6, ICK, GATA4, GNAS, NKX2-1, MEN1, GLI3, MAX, CDKN1C, CDC73, WNT4, TSHR, USP8, ITPR3, ESR1, PAX8, GNAI2, INS, LRP6, PTEN, GCGR

Signaling by FGFR20.0002438043.557

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, FANCA, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Signaling by FGFR18.86484e-053.558

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, ANOS1, GNAS, PTPN11, IL6, TGFB1, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, FANCA, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

PI3K events in ERBB4 signaling0.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Meiosis0.01560656.0121

ATAXIA-TELANGIECTASIA, RESTRICTIVE DERMOPATHY, LETHAL, MALOUF SYNDROME, ROTHMUND-THOMSON SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, THYROID HORMONE RESISTANCE, NIJMEGEN BREAKAGE SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, PREMATURE OVARIAN FAILURE 8, MANDIBULOACRAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2B, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OVARIAN DYSGENESIS 3, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ADRENAL CORTICAL CARCINOMA, OLIGOSYNAPTIC INFERTILITY

15

ATM, LMNA, STAG3, THRB, PSMC3IP, TP53, AR, NR3C1, PEX5, POLR3A, BRCA1, RECQL4, NBN, TEX15, BLM

Recycling of eIF2:GDP0.001935359.981

OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER

5

EIF2B2, EIF2B1, EIF2B5, EIF2B4, EIF2B3

Axon guidance0.0020682.6675

{HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, {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}, TIMOTHY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIDDLE SYNDROME, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, 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, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, FUHRMANN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULTIPLE ENDOCRINE NEOPLASIA IIB, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, MICROPHTHALMIA, SYNDROMIC 6, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LIPOID ADRENAL HYPERPLASIA, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?CHARGE SYNDROME, CHARGE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

71

PTCH1, FGA, SOX9, CAV1, SHH, VHL, KRAS, NFKB2, IL2RA, PDE4D, SCNN1G, BLK, AR, SHOC2, SEMA3A, IGF2, TGFB1, GDNF, PTPN11, INSR, AP2S1, ERCC3, CCND1, CASR, PITX2, SPRY4, OTX2, USP9X, CACNA1C, LEP, BMP4, LHX3, EIF2B2, BMP2, CDKN1B, IL17RD, AIP, GJA1, B2M, FGFR1, FGF17, HS6ST1, PTH, STAR, STAT1, GATA4, CACNA1S, RET, HLA-DQA1, IL6, GLUD1, MAPK8IP1, TP53, PTEN, HRAS, NRAS, IRS2, PTPN1, SEMA3E, ESR1, IRS1, ITPR3, BMPR1B, BTK, STAT3, DUSP6, PIK3R1, WNT7A, INS, CACNA1D, HFE2

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells0.001935359.987

DIARRHEA 4, MALABSORPTIVE, CONGENITAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, 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, 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, HYPERPROINSULINEMIA

5

NEUROD1, INS, PAX4, CCND1, NEUROG3

Regulation of gene expression in beta cells0.004492427.6612

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, 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}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MODY, TYPE I, ESTROGEN RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MODY, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, PANCREATIC AGENESIS 1

9

NEUROD1, HNF1A, SLC2A2, HNF4A, ESR1, AKT2, INS, GCK, PDX1

Biological oxidations0.02228284.4836

PREMATURE OVARIAN FAILURE 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VITAMIN D-DEPENDENT RICKETS, TYPE I, 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, MICROPHTHALMIA, SYNDROMIC 6, OBESITY, MORBID, DUE TO LEPTIN 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, MENTAL RETARDATION, X-LINKED 102, 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, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, GLYCOGEN STORAGE DISEASE XII, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

28

ALDOA, CYP11B1, AR, NR5A1, ATM, GATA6, CYP11B2, DDX3X, PPARG, STAT3, HNF4A, LEP, VDR, CYP27B1, IL6, PTH, IFNG, GATA4, INS, PAPSS2, BMP4, POR, GNRH1, CYP21A2, NR3C1, ESR1, CYP17A1, PIK3R1

Signaling by Leptin0.008003294.0138

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LARON DWARFISM, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

36

NRAS, FGFR1, KRAS, IL2RA, SHOC2, IGF2, TGFB1, GHR, IL6, NFKB2, SPRY4, INSR, LEP, PTPN11, FGF17, GJA1, IL17RD, FGA, ESR1, CCND1, PTH, CDKN1B, BMP4, PNPLA2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, PTPN1, IRS1, STAT3, DUSP6, PIK3R1, INS, SHH

IGF1R signaling cascade3.92609e-063.6951

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, KRAS, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, IFNG, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, STRADA, PLAGL1, SHOC2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, CDC73, PTPN1, IRS1, TSC1, DUSP6, SHH, SLC2A4, INS, PTEN, PIK3R1

IRS-related events triggered by IGF1R3.92609e-063.6951

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, KRAS, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, IFNG, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, STRADA, PLAGL1, SHOC2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, CDC73, PTPN1, IRS1, TSC1, DUSP6, SHH, SLC2A4, INS, PTEN, PIK3R1

Factors involved in megakaryocyte development and platelet production0.04161234.5929

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CAMURATI-ENGELMANN DISEASE, CARNEY COMPLEX, TYPE 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PALLISTER-HALL SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {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, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

25

GATA1, CAV1, VHL, TGFB1, STAT1, PPARG, PRKACA, INSR, PRKAR1A, TP53, AIP, CCND1, CDKN1B, GATA4, GLI3, GATA6, BMP4, PTPN1, IRS1, ITPR3, NR3C1, IRS2, STAT3, GATA3, PIK3R1

Signaling by Insulin receptor7.00778e-053.5652

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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}, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, KRAS, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, PNPLA2, SHOC2, GLUD1, MAPK8IP1, TP53, PTEN, HRAS, IRS2, CDC73, PTPN1, IRS1, STRADA, TSC1, DUSP6, SHH, SLC2A4, INS, PITX2, PIK3R1

Metabolic disorders of biological oxidation enzymes0.001307936.9418

RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PREMATURE OVARIAN FAILURE 7, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, 46XY SEX REVERSAL 3, HYPERPROINSULINEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY

12

VDR, CYP27B1, CYP11B1, CYP11B2, POR, PTH, NR0B1, CYP21A2, GATA4, CYP17A1, INS, NR5A1

Insulin receptor signalling cascade1.11383e-053.6951

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, KRAS, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, PNPLA2, SHOC2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, CDC73, PTPN1, IRS1, STRADA, TSC1, DUSP6, SHH, SLC2A4, INS, PTEN, PIK3R1

Downstream signaling of activated FGFR10.0003317473.5356

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

48

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

PI-3K cascade:FGFR40.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Gene Expression0.004836511.67120

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, 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, PERRAULT SYNDROME 5, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 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, 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, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, LUSCAN-LUMISH SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, 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, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, 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}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, 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, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, LIPOID ADRENAL HYPERPLASIA, 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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

120

TSC2, SALL1, ALDOA, PPARG, MARS, PRKAR1A, HARS2, EIF2B2, TAF4B, B2M, STK11, FMR1, WT1, SIX3, NDUFB11, MARS2, MT-CO3, NBN, ABCD1, BMP4, CDC73, POR, IRS1, CNBP, EIF2B4, GATA3, SOX2, THRB, PTEN, PTCH1, SOX9, CHD7, KRAS, APOA1, NKX2-5, AR, WRN, TCF7L2, THRA, ERCC3, IL6, HMGA1, LEP, AKT2, STAR, AARS2, CCND1, PTH, NR0B1, ICK, PRLR, AAAS, MEN1, GLUD1, MAX, IFNG, NKX2-1, TP63, DUSP6, INS, PITX2, GATA1, DDX3X, SETD2, USP9X, SNRPN, NEUROD1, STAT1, IARS2, CTDP1, NFKB2, VHL, HNF4A, BMP2, BRCA1, POLR3A, VDR, NDUFS1, TP53, POLD1, CDKN1C, HNF1A, NONO, GH1, LARS2, STAT3, CYC1, EIF2B1, IGF2BP2, SEMA3A, HDAC8, EIF2B5, NR5A1, TGFB1, PTRF, ATM, GATA4, KMT2D, EIF2AK3, DICER1, ESR1, PRKACA, SLC2A4, EIF2B3, LIPE, CBX2, CDKN1B, MT-ND5, MEF2A, HRAS, IRS2, SARS2, GNRH1, POLR3B, STX16, NR3C1, TSC1, C10orf2, CYP17A1, PIK3R1

PI-3K cascade:FGFR10.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Gastrin-CREB signalling pathway via PKC and MAPK1.73696e-073.0878

?PRECOCIOUS PUBERTY, CENTRAL, 1, 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}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HARTSFIELD SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 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, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MICROPHTHALMIA, SYNDROMIC 6, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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}, PSEUDOHYPOPARATHYROIDISM IC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

69

NRAS, EIF2B2, AR, CAV1, VHL, KRAS, GJA1, IL2RA, SHOC2, KISS1, PTEN, PROKR2, EIF2B1, GNA11, IGF2, TGFB1, GLI3, PTPN11, STAT1, IL6, GNRHR, GCGR, NFKB2, SPRY4, GHSR, LEP, CASR, FGF17, KISS1R, STAR, IL17RD, FGA, ESR1, FSHR, FGFR1, CCND1, PTH, CDKN1B, BMP4, ICK, FANCA, GNAS, TRH, TACR3, NR5A1, MEF2A, TP53, LRP6, HRAS, GLUD1, IRS2, TSHR, PTPN1, IFNG, IRS1, ITPR3, EIF2B4, GNRH1, STAT3, DUSP6, SHH, GNAI2, MAPK8IP1, INS, PROK2, TAC3, PDE4D, AVP, PIK3R1

Peptide hormone metabolism6.78332e-075.0235

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}, ?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, LEPRECHAUNISM, HYPERPROINSULINEMIA, MICROPHTHALMIA, SYNDROMIC 6, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE OVARIAN FAILURE 7, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OVARIAN DYSGENESIS 1, 46XY SEX REVERSAL 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

30

FSHB, LHB, RETN, NR5A1, TGFB1, IGF2, PTPN11, GATA4, IL6, INSR, LEP, TCF7L2, AKT2, BMP2, PCSK1, FSHR, LHCGR, CCND1, TP53, SLC30A8, TRH, BMP4, HNF1A, TSHR, TSHB, GNRH1, PTEN, GH1, NR3C1, INS

PI3K/AKT Signaling in Cancer0.004161875.6823

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, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, IRS2, TSC2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, IGF2, TGFB1, IRS1, HRAS, INSR

Diseases of signal transduction3.3007e-053.5955

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 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, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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, HARTSFIELD SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AXENFELD-RIEGER SYNDROME, TYPE 1, FUHRMANN SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, CORNELIA DE LANGE SYNDROME 5, TUBEROUS SCLEROSIS 2, {HASHIMOTO THYROIDITIS}, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, IMAGE SYNDROME

50

SOX9, TTR, SOX2, HDAC8, NRAS, SALL1, WNT3, TGFB1, PTPN11, INSR, THRA, CCND1, TCF7L2, GJA1, FGFR1, STAT3, HNF4A, LEP, BMP4, AKT2, BMP2, KRAS, BTK, ESR1, TSC2, FGF17, IL6, PTH, CDKN1B, STAT1, PITX2, GATA4, INS, SHOC2, TP53, CTLA4, PTEN, HRAS, CDKN1C, CDC73, POR, USP8, IRS2, TP63, SHH, WNT7A, CYP17A1, LRP6, IRS1, PIK3R1

SHC-mediated cascade:FGFR20.01364317.857

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}, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

8

NRAS, IRS1, FGFR1, LEP, PTPN11, FGF17, KRAS, HRAS

SLC-mediated transmembrane transport0.01968613.9539

DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], BARTTER SYNDROME, TYPE 1, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MODY, TYPE II, 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}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GITELMAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, ADRENAL CORTICAL CARCINOMA, ACRODERMATITIS ENTEROPATHICA, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HEMOCHROMATOSIS, TYPE 4, ?46XY SEX REVERSAL 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, GLYCOGEN STORAGE DISEASE IC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, THYROID DYSHORMONOGENESIS 1, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

36

CP, SLC40A1, GJA1, SLC2A2, TP53, SLC39A4, GDNF, SLC29A3, SLC16A1, GCK, PPARG, LEP, AVP, FXN, INSR, PTPN11, SLC2A4, CDKN1B, G6PC3, CBX2, PTH, STAR, SLC30A8, ICK, AAAS, CTNS, SLC37A4, HNF1A, SLC5A5, IRS1, PPP1R15B, STAT3, SLC12A3, INS, PITX2, SLC12A1

PI-3K cascade:FGFR20.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Downstream signaling of activated FGFR20.0003317473.5356

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

48

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Glucocorticoid biosynthesis6.94394e-058.7311

ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, 46XY SEX REVERSAL 3, CORTISONE REDUCTASE DEFICIENCY 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY

8

CYP11B1, CYP11B2, CYP21A2, HSD11B1, CYP17A1, MSMO1, NR5A1, HSD3B2

Regulation of insulin secretion0.04627155.5632

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}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HYPERPROINSULINEMIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC

16

KCNJ11, CASR, ITPR3, CACNA1D, ABCC8, GNA11, PRKACA, PRKAR1A, CACNA1C, GLIS3, GNAI2, INS, TRH, GNAS, SLC2A2, HRAS

Regulation of beta-cell development3.57227e-086.7220

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, 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, MODY, TYPE II, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MODY, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ESTROGEN RESISTANCE, PANCREATIC AGENESIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PANCREATIC AND CEREBELLAR AGENESIS, RENAL CYSTS AND DIABETES SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, 46,XX SEX REVERSAL, TYPE 2, HYPERPROINSULINEMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PANCREATIC AGENESIS 1

18

NEUROD1, SOX9, PTF1A, CCND1, SHH, GCK, PDX1, ESR1, HNF4A, PAX4, STAT3, HNF1B, AKT2, INS, HNF1A, NEUROG3, SLC2A2, TCF7L2

Thyroxine biosynthesis0.011058.897

HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 4, THYROID DYSHORMONOGENESIS 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

6

TSHB, TSHR, SLC5A5, POU1F1, IYD, TPO

Signaling by PDGF0.001402423.360

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, {HASHIMOTO THYROIDITIS}, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FUHRMANN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

52

NRAS, VHL, KRAS, APOA1, TSC2, IGF2, TGFB1, GNAS, PTPN11, INSR, STAT1, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, FGF17, WNT7A, PRKAR1A, BMP2, GJA1, IL17RD, FGA, ESR1, B2M, FGFR1, AKT2, CCND1, PTH, IL2RA, CDKN1B, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, PTEN, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, PITX2, PIK3R1

Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)3.92609e-063.6951

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PEUTZ-JEGHERS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, PPARG, SOX2, IL2RA, NRAS, STUB1, IGF2, TGFB1, PTPN11, INSR, KRAS, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, AKT2, IFNG, IL17RD, FGA, ESR1, GJA1, FGFR1, STK11, FGF17, CCND1, PTH, CDKN1B, BMP4, ICK, STRADA, PLAGL1, SHOC2, GLUD1, MAPK8IP1, TP53, HRAS, IRS2, CDC73, PTPN1, IRS1, TSC1, DUSP6, SHH, SLC2A4, INS, PTEN, PIK3R1

Transmembrane transport of small molecules1.82642e-052.6483

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BARTTER SYNDROME, TYPE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BARTTER SYNDROME, TYPE 3, AXENFELD-RIEGER SYNDROME, TYPE 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, 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}, ?46XY SEX REVERSAL 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HEMOCHROMATOSIS, TYPE 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, GLYCOGEN STORAGE DISEASE IC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, ACRODERMATITIS ENTEROPATHICA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, RENAL CYSTS AND DIABETES SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, THYROID DYSHORMONOGENESIS 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

78

CP, TTR, INS, CAV1, SLC40A1, FGFR1, SLC5A5, GJA1, APOA1, FSHR, HNF1B, KCNJ1, CLCNKA, HAMP, IGF2, SCNN1B, SLC29A3, FXN, GATA4, KCNJ11, SLC16A1, LEP, GDNF, TP63, PITX2, PPARG, ESR1, PRKACA, AVP, CACNA1C, INSR, PRKAR1A, HRAS, SLC39A4, SLC2A2, CDKN1B, G6PC3, FGA, B2M, SLC12A3, CBX2, PTH, STAR, SLC30A8, SLC37A4, ICK, PPP1R15B, GNAS, CLCNKB, SCNN1G, PTPN11, IL6, ATP7B, CTNS, TP53, ABCC8, BSND, BMP4, ITCH, HNF1A, PTPN1, KRAS, IRS1, ITPR3, AAAS, NR3C1, IRS2, STAT3, STEAP3, PIK3R1, GNAI2, SLC2A4, ABCD1, HFE, PDE4D, GCGR, GCK, SLC12A1

Metabolism7.63318e-111.14192

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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, 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}, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, 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, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 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, ADRENAL CORTICAL CARCINOMA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], 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, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GLUCOCORTICOID DEFICIENCY 4, JOHANSON-BLIZZARD SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, 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, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MULTIPLE ENDOCRINE NEOPLASIA IIA, THYROID DYSHORMONOGENESIS 2A, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, THYROID DYSHORMONOGENESIS 1, CORTISONE REDUCTASE DEFICIENCY 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, MODY, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, PERRAULT SYNDROME 5, CHILD SYNDROME, 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, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, 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, BLOOM SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, THYROID DYSHORMONOGENESIS 4, 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, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, LIPOID ADRENAL HYPERPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PENDRED SYNDROME

185

FSHB, FANCM, CAV1, AMACR, SLC5A5, PAPSS2, KISS1, MTNR1B, GNAS, TBX19, FXN, ACP5, CYP11B2, KCNJ11, SLC16A1, ENPP1, PPARG, CDKN1B, OTX2, PRKAR1A, AKR1C4, HARS2, NSDHL, BTK, GJA1, TAF4B, FGA, B2M, KISS1R, STK11, HADH, LIPE, CYP11B1, FANCA, PNPLA2, MARS2, SDHB, MT-CO3, ABCD1, BMP4, CDC73, POR, IRS1, HSD11B1, CYC1, POU1F1, GNAI2, THRB, PEX5, SHOC2, HSD17B4, SRD5A3, SOX2, APOA1, FSHR, SLC26A4, NKX2-5, AR, WRN, TCF7L2, THRA, HS6ST1, CACNA1D, FGFR1, MT-ND6, HMGA1, PTH, LEP, LMNA, NNT, MSMO1, STAR, KCNJ1, NEUROD1, GK, CCND1, CEL, NR0B1, GPD2, PPP1R15B, NKX2-1, GLIS3, MEN1, GLUD1, GDNF, HSD17B3, CASR, PTPN1, IFNG, CYP21A2, AAAS, TP63, ERCC8, DUSP6, INS, LRP6, TPO, PLIN1, CP, TTR, DDX3X, GNA11, SLC2A2, HMBS, SDHD, UBR1, CYP27B1, TSHB, STAT1, SLC19A2, CTDP1, GCK, SOX9, VHL, HNF4A, BMP2, FOXP3, HRAS, BRCA1, NDN, KRAS, VDR, TSC2, SRD5A2, LHB, TP53, CISD2, MT-ND1, MAPK8IP1, POLD1, EIF2B2, SLC37A4, TSHR, SIL1, PTEN, ITPR3, G6PC3, EIF2B5, AGPAT2, SERPINC1, MT-ND4, HDAC8, NDUFS1, STUB1, EIF2B1, LHCGR, NR5A1, TGFB1, PTPN11, ATM, GATA4, GCGR, DICER1, STAT3, PRKACA, CACNA1C, INSR, AKR1C2, SLC2A4, EIF2B3, BLM, ALDOA, IL6, MARS, GATA6, ZMPSTE24, CACNA1S, MT-ND5, TRH, RET, IYD, MEF2A, ABCC8, HSD3B2, IRS2, GNRH1, POLR3B, NDUFB11, NR3C1, ESR1, PIK3R1, C10orf2, CYP17A1, AVP, SHH

Signaling by ERBB40.01232343.5248

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CAMURATI-ENGELMANN DISEASE, KOWARSKI SYNDROME, HARTSFIELD SYNDROME, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA 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, 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, TUBEROUS SCLEROSIS-1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, LARON DWARFISM, TUBEROUS SCLEROSIS 2, {HASHIMOTO THYROIDITIS}, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

45

NRAS, FGFR1, KRAS, IL2RA, TSC2, SHOC2, IGF2, TGFB1, GHR, INSR, IL6, NFKB2, SPRY4, TSC1, LEP, BMP4, FGF17, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, CDKN1B, IRS2, PRLR, PTPN11, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, ITCH, PTPN1, IRS1, GH1, TP63, DUSP6, SHH, INS, STAT3, PTEN, PIK3R1

Signalling by NGF0.007712612.9368

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {HASHIMOTO THYROIDITIS}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, 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, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

60

TSC2, VHL, KRAS, APOA1, NRAS, PLAGL1, SHOC2, IGF2, TGFB1, MAPK8IP1, PTPN11, INSR, AP2S1, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, BMP4, AKT2, PRKAR1A, BTK, GJA1, IL17RD, FGA, ESR1, FSHR, FGFR1, B2M, LYZ, CCND1, THRA, PTH, IL2RA, CDKN1B, STAT1, ICK, GNAS, RET, GLUD1, MEF2A, TP53, CTLA4, HRAS, FGF17, IRS2, PTPN1, GNRH1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, PTEN, PIK3R1

PI3K Cascade2.97028e-065.7627

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}, HYPERPARATHYROIDISM 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, SHORT SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, 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, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEOPARD SYNDROME 1

22

TSC2, SOX2, STUB1, PTPN11, FGFR1, INSR, PRKACA, LEP, AKT2, STK11, FGF17, IL6, TP53, STRADA, HRAS, IRS2, CDC73, IRS1, TSC1, INS, PTEN, PIK3R1

Signaling by ERBB25.67508e-053.4858

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, {HASHIMOTO THYROIDITIS}, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

51

NRAS, VHL, KRAS, APOA1, TSC2, STUB1, IGF2, TGFB1, GNAS, PTPN11, INSR, IL6, NFKB2, SPRY4, STAT3, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, FGFR1, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, PTEN, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, USP8, PIK3R1

Platelet activation, signaling and aggregation0.0002834643.8744

PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, VON WILLEBRAND DISEASE, PLATELET-TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FRASIER SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE XII, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

42

GATA1, PDE4D, TTR, ALDOA, SHH, GNA11, SOX2, APOA1, HTR1A, GP1BA, IGF2, TBX19, PTPN11, STAT1, CASR, TGFB1, VHL, ESR1, PRKACA, INSR, AKT2, KRAS, FGA, B2M, IL6, PTH, IL2RA, FMR1, WT1, RET, TP53, HRAS, PTPN1, IFNG, IRS1, ITPR3, GNRH1, STAT3, GCGR, GNAI2, INS, PIK3R1

Response to elevated platelet cytosolic Ca2+0.01907155.3921

SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?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}, GLYCOGEN STORAGE DISEASE XII, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRASIER SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, ADRENAL CORTICAL CARCINOMA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, TUBEROUS SCLEROSIS 2

19

FGA, STAT1, ALDOA, IRS1, IL6, SHH, APOA1, TP53, WT1, TBX19, SOX2, STAT3, PIK3R1, IL2RA, INS, IGF2, TGFB1, IFNG, HRAS

Phospholipase C-mediated cascade: FGFR10.0004844926.423

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MICROPHTHALMIA, SYNDROMIC 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

14

BMP4, FGFR1, FGF17, PTH, APOA1, GJA1, ITPR3, PRKACA, PRKAR1A, GNAI2, DUSP6, GNAS, IRS1, HRAS

Metabolism of lipids and lipoproteins1.79193e-132.4115

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?PERRAULT SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BARTTER SYNDROME, TYPE 2, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRADER-WILLI SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, MALOUF SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTISONE REDUCTASE DEFICIENCY 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERRAULT SYNDROME 5, CHILD SYNDROME, CORNELIA DE LANGE SYNDROME 5, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, 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, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ADRENAL CORTICAL CARCINOMA, 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, LEOPARD SYNDROME 1

109

FSHB, MARS2, CAV1, FGFR1, LMNA, MTNR1B, TBX19, CYP11B2, PPARG, PRKAR1A, ABCD1, HARS2, NSDHL, TAF4B, FGA, B2M, STK11, HADH, LIPE, CYP11B1, PPP1R15B, FANCM, AKR1C4, BMP4, POR, IRS1, HSD11B1, GNAI2, PTEN, HSD17B4, SRD5A3, KRAS, APOA1, FSHR, NKX2-5, AR, THRA, CCND1, AMACR, HMGA1, PTH, LEP, MSMO1, IFNG, KCNJ1, GK, HS6ST1, CEL, NR0B1, HSD17B3, MEN1, FANCA, CYP21A2, STAT3, INS, PLIN1, TTR, ALDOA, GJA1, CYP27B1, TSHB, STAT1, CASR, HNF4A, BMP2, HRAS, BRCA1, NDN, SOX2, VDR, SRD5A2, HDAC8, TP53, CISD2, GPD2, ERCC8, PTPN1, SIL1, PEX5, AGPAT2, EIF2B5, LHB, EIF2B1, LHCGR, NR5A1, TGFB1, PTPN11, ATM, GATA4, AVP, TP63, PRKACA, AKR1C2, SLC2A4, IL6, STAR, GATA6, TRH, HSD3B2, IRS2, GNRH1, POLR3B, PNPLA2, NR3C1, ESR1, PIK3R1, C10orf2, CYP17A1, SHH

GPCR ligand binding6.95944e-133.3889

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, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HOLOPROSENCEPHALY-7, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 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, PSEUDOHYPOPARATHYROIDISM IA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, 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, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, SERKAL SYNDROME, 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, 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, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, 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, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

71

PTCH1, FSHB, MTNR1B, CAV1, SHH, FGFR1, LHB, FSHR, KISS1, RETN, OTX2, PROKR2, EIF2B1, NR5A1, TGFB1, WNT3, PTPN11, GATA6, IL6, GNRHR, GDNF, TBX19, PITX2, PPARG, INSR, PROK2, LEP, CASR, FOXP3, TCF7L2, BRCA1, WNT7A, KISS1R, BMP2, CDKN1B, VDR, TAS2R38, ESR1, LHCGR, CCND1, PTH, PTEN, STAR, GATA4, GNAS, NKX2-1, TRH, WNT4, TACR3, GLI3, TP53, TAC3, HRAS, BMP4, HTR1A, TSHB, TSHR, IFNG, PDX1, GLI2, SALL1, NR3C1, GNRH1, GHSR, GCGR, GNAI2, INS, STAT3, LRP6, AVP, PIK3R1

Signaling by FGFR40.0002051133.5157

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, FANCA, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Metabolism of steroid hormones and vitamin D9.02424e-166.5729

PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PREMATURE OVARIAN FAILURE 7, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, CAMURATI-ENGELMANN DISEASE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, LIPOID ADRENAL HYPERPLASIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, CORTISONE REDUCTASE DEFICIENCY 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

26

EIF2B1, LHB, SRD5A3, NR5A1, TGFB1, CYP27B1, GATA4, CYP11B2, LEP, MSMO1, NR0B1, FSHR, LHCGR, SRD5A2, PTH, APOA1, STAR, HSD17B3, HSD3B2, CYP11B1, POR, CYP21A2, NR3C1, HSD11B1, CYP17A1, SHH

Signaling by FGFR30.0002051133.5157

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, FANCA, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Signaling by FGFR0.0001059463.558

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, HYPERPROINSULINEMIA, BANNAYAN-RILEY-RUVALCABA 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

50

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, ANOS1, GNAS, PTPN11, IL6, TGFB1, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, FANCA, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Signaling by SCF-KIT0.04211983.5943

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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPERPROLACTINEMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {HASHIMOTO THYROIDITIS}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BANNAYAN-RILEY-RUVALCABA SYNDROME, TUBEROUS SCLEROSIS 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, TUBEROUS SCLEROSIS-1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

42

TSC2, FGFR1, KRAS, IL2RA, NRAS, IGF2, TGFB1, PTPN11, STAT1, IL6, NFKB2, SPRY4, INSR, LEP, FGF17, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, CDKN1B, BMP4, PRLR, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, TSC1, DUSP6, SHH, INS, STAT3, PTEN, PIK3R1

NCAM signaling for neurite out-growth0.01083483.7242

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FUHRMANN SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AXENFELD-RIEGER SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

41

SHOC2, SPRY4, KRAS, IL2RA, WNT7A, VHL, IGF2, TGFB1, GDNF, PTPN11, LEP, CACNA1D, FGFR1, ESR1, CACNA1C, BMP2, FGF17, PITX2, GJA1, IL17RD, FGA, CCND1, PTH, CDKN1B, CACNA1S, RET, GLUD1, MAPK8IP1, TP53, PTEN, HRAS, IRS2, PTPN1, IRS1, NRAS, STAT3, DUSP6, PIK3R1, INS, NFKB2, SHH

DAP12 signaling0.0003285413.4957

HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAMURATI-ENGELMANN DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, HYPERPROINSULINEMIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, 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, MICROPHTHALMIA, SYNDROMIC 6, {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, TUBEROUS SCLEROSIS-1, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HASHIMOTO THYROIDITIS}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

49

TSC2, FGFR1, KRAS, APOA1, NRAS, IGF2, TGFB1, GNAS, PTPN11, IL6, NFKB2, SPRY4, INSR, PRKACA, LEP, FOXP3, FGF17, PRKAR1A, BTK, GJA1, IL17RD, FGA, ESR1, B2M, AKT2, CCND1, PTH, IL2RA, CDKN1B, BMP4, SHOC2, GLUD1, MAPK8IP1, TP53, CTLA4, HRAS, IRS2, PTPN1, IRS1, ITPR3, NR3C1, TSC1, DUSP6, SHH, GNAI2, INS, STAT3, PTEN, PIK3R1

Lipid digestion, mobilization, and transport0.001618066.0920

SHORT SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROPHTHALMIA, SYNDROMIC 6, 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, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CAMURATI-ENGELMANN DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4

16

PLIN1, BMP4, CAV1, IL6, PRKACA, CEL, APOA1, LIPE, PPARG, LEP, NR3C1, PNPLA2, HNF4A, INS, TGFB1, PIK3R1

Hormone ligand-binding receptors2.57785e-089.2810

HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, OVARIAN DYSGENESIS 1, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPERTHYROIDISM, NONAUTOIMMUNE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

9

TSHR, FSHB, LHCGR, TSHB, GNRHR, GNRH1, LHB, FSHR, TRH

PIP3 activates AKT signaling0.04270395.4423

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HARTSFIELD SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1

18

BMP4, AKT2, LEP, CDKN1B, FGFR1, TP63, TSC2, IRS2, ESR1, PTEN, PIK3R1, FGF17, PTPN11, INS, TGFB1, IRS1, HRAS, INSR

Signaling by GPCR0.000112611.81126

MULLERIAN APLASIA AND HYPERANDROGENISM, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, 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, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {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, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IC, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, 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, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, 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, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, SERKAL SYNDROME, 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, TIMOTHY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, 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, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, 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}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

116

PDE4D, CAV1, FSHB, PLAGL1, SALL1, MTNR1B, GNAS, TBX19, GLI3, PPARG, PDE11A, OTX2, PRKAR1A, EIF2B2, IL17RD, FGA, STK11, FGF17, WT1, PROK2, KISS1, PTPN1, BMP4, IRS1, EIF2B4, GHSR, GNAI2, WNT4, PTCH1, WNT7A, KRAS, APOA1, GLI2, AR, IGF2, TCF7L2, GNRHR, FGFR1, POU1F1, LEP, AKT2, STAR, FSHR, CCND1, PTH, IFNG, NKX2-1, SOX9, GLUD1, GDNF, TAS2R38, PROKR2, STAT3, DUSP6, SEC23B, INS, LRP6, PITX2, GNA11, GJA1, IL2RA, SHOC2, UBR1, NEUROD1, TSHB, STAT1, CASR, NFKB2, VHL, BMP2, FOXP3, BRCA1, VDR, HTR1A, TP53, MAPK8IP1, KISS1R, FANCA, PTEN, ITPR3, TAC3, NRAS, LHB, RETN, EIF2B1, LHCGR, NR5A1, TGFB1, WNT3, PTPN11, TSHR, GATA6, TACR3, GCGR, AVP, SPRY4, TSC1, PRKACA, CACNA1C, INSR, IL6, PIK3R1, CDKN1B, GATA4, CACNA1S, TRH, RET, MEF2A, CTLA4, HRAS, IRS2, GNRH1, NR3C1, ESR1, SHH, PDX1

Growth hormone receptor signaling0.001173058.288

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}, KOWARSKI SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?HYPERPROLACTINEMIA

8

STAT1, PTPN1, IRS1, GH1, STAT3, IRS2, PRLR, GHR

Hemostasis3.49138e-072.5198

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, 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, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PEUTZ-JEGHERS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, 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, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, 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, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPERPARATHYROIDISM, NEONATAL, 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, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

88

PDE4D, CAV1, GP1BA, GNAS, TBX19, GLI3, PPARG, PDE11A, PRKAR1A, KISS1R, FGA, B2M, STK11, FMR1, WT1, BMP4, CDC73, IRS1, GATA3, GNAI2, PEX5, SHOC2, SOX2, APOA1, AR, IGF2, ERCC3, SLC16A1, FGFR1, LEP, AKT2, CDKN1B, CCND1, PTH, IFNG, SOX9, GLUD1, PTPN1, TP63, INS, ABCC8, GATA1, TTR, ALDOA, GNA11, GJA1, IL2RA, NRAS, STAT1, CASR, VHL, BMP2, FOXP3, KRAS, AIP, HTR1A, TP53, MAPK8IP1, ITCH, TSHR, PTEN, ITPR3, LYZ, STAT3, SERPINC1, BMPR1B, EIF2B1, TGFB1, WRN, PTPN11, GATA6, APPL1, TSC1, PRKACA, INSR, IL6, PIK3R1, STAR, GATA4, RET, HRAS, IRS2, GNRH1, NR3C1, ESR1, GCGR, HFE, SHH