C0001206

Acromegaly

GH1, GNAS, IGF1, AIP

C0001614

Adrenal Cortex Diseases

POMC

C0001621

Adrenal Gland Diseases

CGA

C0001623

Adrenal Gland Hypofunction

CYP11A1

C0001624

Adrenal Gland Neoplasms

CTNNB1, GNAS, GNRH1, GNRHR, PRKACA, PTGS2, RB1, TP53, CDC42

C0001627

Congenital Adrenal Hyperplasia

CYP17A1, CYP21A2, HSD3B2, AVPR2, PRKAR1A, PDE8B

C0003128

Anovulation

NR5A2

C0004775

Bartter Disease

CLCNKB

C0005942

Bone Diseases, Endocrine

PDGFA, PTH

C0010308

Congenital Hypothyroidism

DUOX2

C0010417

Cryptorchidism

CHRM3, GPX4, HSD3B2, INSL3, ATRX

C0010481

Cushing Syndrome

POMC, PRKAR1A

C0011848

Diabetes Insipidus

POMC

C0011849

Diabetes Mellitus

CPT1A, ADRB1, CYBB, FN1, TMEFF2, INS, IRS1, LEPR, MAP3K5, POMC, PON1, PPARG, PTGS2, RAC1, AOC3, ADIPOQ

C0011853

Diabetes Mellitus, Experimental

PPARGC1A, CHRM2, CPT1A, CPT1B, ADRA1A, CYBB, CYP1A1, ADRB3, ACE, NQO1, AGT, EDN1, ESRRA, ACSL1, FOXO3, GPD2, GPX1, GSR, HK1, HMOX1, HSD11B1, IAPP, ICAM1, ID1, IGF1, FAS, IL1B, IL6, INSR, IRS1, KCNJ11, LEPR, STS, MAP3K5, MFGE8, MMP2, MMP9, MPO, ATF3, NOS3, ATP2A2, SERPINE1, ACOX1, PCK1, PDK4, PPARA, PPARG, PRKCA, PRKCD, PTGS2, GPAM, BAX, BCL2, RELA, S100A6, CCL20, SLC2A4, SNAP25, SOD2, SREBF1, TGFB1, TIMP1, TIMP2, TNF, TP53, UCP2, VEGFA, YWHAH, CAV1, AOC3, AIFM1, CD68

C0011854

Diabetes Mellitus, Insulin-Dependent

SH2B3, PHTF1, CHRM2, GAB3, CRP, CTSH, DDIT3, GLIS3, ERBB3, PRKD2, PTPN22, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, HP, HSD11B2, IGF1, IGF2, IL10, INS, ITPR3, KCNJ11, CENPW, NOS3, PAX4, FOXP3, PGM1, MEG3, GSDMB, PRKCQ, PTPN2, BACH2, CCL20, IKZF4, SLC11A1, ZFP36L1, STAT3, HNF1A, TNF, NAA25, SKAP2, AIFM1

C0011859

Lipoatrophic Diabetes Mellitus

FOS, PPARG, CAV1

C0011860

Diabetes Mellitus, Non-Insulin-Dependent

MPHOSPH9, AP3S2, MAEA, CDO1, HMG20A, IGF2BP2, PPARGC1A, KCNQ1OT1, FAF1, CAPN10, OSBPL1A, ARAP1, CPT1A, SLC30A8, GLIS3, ECE1, EDN1, EDNRA, EGFR, AKT2, JAZF1, GPSM1, GCG, GNB3, GPD2, GRK5, GPX1, GRB14, GSTM1, HBA1, HHEX, HK1, HMGA1, HMOX1, HP, IAPP, ICAM1, ID1, FAS, IL6, INS, INSR, IRS1, KCNJ11, LEP, LEPR, MTNR1B, ATF3, NFKB1, NOS3, NOTCH2, ATP2A2, PAM, PAX4, ENPP1, POU5F1, PPARA, PPARG, CDKAL1, PPP1R3A, ITLN1, PRKCB, PROX1, RETN, ADAMTS9, ZMIZ1, PTPRD, RBMS1, BCL2, RELA, RGS7, RNF6, ZFAND3, S100A6, THADA, SHBG, ST6GAL1, SLC2A1, SLC2A4, SNAP25, SOD2, HNF1A, TCF7L2, TGFB1, TIMP1, TNF, TNFRSF1B, C3, UBE2E2, UCP2, VEGFA, FTO, CMIP, HMGA2, CASP8, IRS2, CBS, CCND2, KCNK17, PRC1, DNER, ADIPOQ, TP53INP1, MAPK8IP1, VPS26A

C0011875

Diabetic Angiopathies

ALB, HMOX1, HP, ASS1, MTHFR, NOS3

C0011880

Diabetic Ketoacidosis

INS

C0011881

Diabetic Nephropathy

SORBS1, TXNIP, DGKH, ACE, AGT, ERBB4, ALB, GAS6, MIR646HG, INS, AFF3, MDK, NOS3, SERPINE1, RELA, CCL2, SOD2, TGFB1, TGFBI, TGFBR2, VDAC2, VEGFA, AOC3, ADIPOQ, ELMO1

C0011882

Diabetic Neuropathies

CHRM2, HGF, INSR, MME, MMP2, MMP9, TGFB1, TLR4

C0011884

Diabetic Retinopathy

CRP, AGT, AGTR1, ICAM1, PON1, RBFOX1, ARHGAP22, THBS1, VEGFA, PLXDC2

C0012236

Digeorge Syndrome

COMT, CRKL, GP1BB, TBX1, HIRA, UFD1L

C0013336

Dwarfism

PLK4, HAPLN1, ORC1

C0014130

Endocrine System Diseases

CPE, GNAS

C0018021

Goiter

CLCN5

C0018022

Endemic Goiter

DICER1

C0018051

Gonadal Dysgenesis

FMR1

C0018213

Graves Disease

B3GNT2, ABCF1, PTPN22, GC, HLA-J, ITPR3, ZNRD1ASP, ARID5B, RNASET2

C0020428

Hyperaldosteronism

CYP11B1, CYP11B2

C0020503

Hyperparathyroidism, Secondary

CRP, ALPL, IL6, PTH

C0020514

Hyperprolactinemia

DRD2, GNRH1, LHB, PRL, PRLR

C0020550

Hyperthyroidism

GPX1, GSR, PON1, SOD2, CARTPT

C0020595

Hypoaldosteronism

CYP11B2

C0020619

Hypogonadism

CYP17A1, CYP19A1, FSHB, GNRH1, GNRHR, LEP, LEPR, LHB, POLD1, PRL

C0020635

Hypopituitarism

CYP17A1, CYP19A1, PRL

C0020676

Hypothyroidism

SH2B3, VAV3, PHTF1

C0023601

Leydig Cell Tumor

LHB, LHCGR, PRL

C0025267

Multiple Endocrine Neoplasia Type 1

CDKN1A, CDKN1B, CDKN2B, CDKN2C

C0029927

Ovarian Cysts

COL11A1, CYP17A1, AGTR2, FGD2, ANG, GPR34, MFAP2, NFKB1, PARK2, PEX14, PTGER4, PTGS1, RPL5, SFRP4, NR2F1, TMOD1, CACNB3, NMT2

C0029928

Ovarian Diseases

CGA, CYP19A1

C0030297

Pancreatic Neoplasm

CLPTM1, CNR1, CTNNB1, GADD45A, DPYD, TYMP, AHR, SLC29A1, EFEMP1, FGF13, PALLD, NR5A2, FOXP1, HIF1A, CXCL8, KRAS, LY6E, EPCAM, MMP9, MYC, PLAU, ATRX, PPARG, PTCH1, PTEN, PTGS2, PTHLH, RB1, SOD2, SPINK1, BRCA1, BRCA2, SSTR1, STAT3, STK11, TGFB1, TNF, TP53, TSC2, TYMS, VEGFB, WT1, TFPI2, TNFSF10, NRP1, CFLAR, CD44

C0032002

Pituitary Diseases

LEPR

C0032019

Pituitary Neoplasms

CDKN1B, DRD2, AGTR1, GH1, IGF1, PRL

C0033375

Prolactinoma

PRL, BMP4, AIP

C0034012

Delayed Puberty

KISS1, LEPR, LHB, KISS1R

C0034013

Precocious Puberty

GNAS, IGF1, PTGS2

C0036875

Disorders Of Sex Development

AKR1C1, AKR1C2, LHCGR, AKR1C3

C0039584

Testicular Diseases

TSC22D3, PPP3CA

C0039585

Androgen-Insensitivity Syndrome

AR

C0039590

Testicular Neoplasms

ERCC1, ERCC4, KITLG, ATF7IP

C0040128

Thyroid Diseases

CNST, DIO2, ID2, ID3, ITGB5, CCL2, KLF9

C0040136

Thyroid Neoplasm

EPOR, HIF1A, HPGD, IL1B, IL6, CXCL8, KRAS, PDGFA, ENPP2, PPARG, PTGS2, CCL2, SLC5A5, TNF, TP53, TPM3, TPR, PRDM2, NCOA4, TCF7L1

C0040156

Thyrotoxicosis

MTHFR

C0041408

Turner Syndrome

GH1, SOD2

C0043207

Wolfram Syndrome

CISD2

C0085083

Ovarian Hyperstimulation Syndrome

FSHR

C0085207

Gestational Diabetes

IGF2BP2, CYP19A1, FGF2, AR, LEP, LEPR, MBL2, CDKAL1, SOD2, ADIPOQ

C0085215

Ovarian Failure, Premature

FMR1, WT1

C0151516

Thyroid Hypoplasia

PAX8

C0153594

Malignant Neoplasm Of Testis

KIT, KITLG, STK11, BCL10

C0162309

Adrenoleukodystrophy

HMOX1, SOD2

C0162809

Kallmann Syndrome

SEMA3A, DUSP6, FGFR1, FLRT3, NSMF, ANOS1, CHD7, WDR11, SPRY4, KISS1R, HS6ST1

C0206081

Hyperandrogenism

BMPR2

C0206115

Wagr Syndrome

BDNF, WT1

C0206686

Adrenocortical Carcinoma

CTNNB1, EGFR, IGF1R, IGF2, RB1, RRM1, SPARC, TOP2A, TP53, MED12

C0220704

Shprintzen Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0221002

Hyperparathyroidism, Primary

PTH

C0221406

Pituitary-Dependent Cushing'S Disease

GNAI2, GNAS, POMC, PPARG, AIP

C0242341

Sexual Infantilism

CYP19A1

C0265344

Donohue Syndrome

INSR

C0268301

Reifenstein Syndrome

AR

C0271568

Laron Syndrome

GHR

C0271623

Hypogonadotropic Hypogonadism

GNRHR

C0271695

Rabson-Mendenhall Syndrome

INSR

C0339143

Thyroid Associated Opthalmopathies

PTGS2, SCD

C0342185

Hyperthyroxinemia, Familial Dysalbuminemic

ALB

C0342257

Complications Of Diabetes Mellitus

ALDH2, AKR1B1, HIF1A, HP, VEGFA

C0346302

Growth Hormone-Secreting Pituitary Adenoma

GH1, GNAS, PRL, SSTR5, AIP

C0346647

Malignant Neoplasm Of Pancreas

DAB2, DPP6, NR5A2, FAM19A5, LINC-PINT, BACH1, BICD1, CLPTM1L

C0549473

Thyroid Carcinoma

NRG1

C0677607

Hashimoto Disease

C1S

C0677776

Hereditary Breast And Ovarian Cancer Syndrome

RAD50, MRE11A, NBN, PTEN, BARD1, RAD51, RAD51C, RAD51D, BRCA1, BRCA2, TP53

C0685837

Pure Gonadal Dysgenesis, 46, Xx

FSHR, PSMC3IP, BMP15

C0795907

Conotruncal Anomaly Face Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L

C0853897

Diabetic Cardiomyopathies

AGTR2, SLC25A4, APOA1, IGF1, INS, ATP2A2, RYR2, SPP1, TNF

C0887833

Carcinoma, Pancreatic Ductal

NDRG1, JAG1, AGTR1, HEY1, HES1, HSPA1A, HSPA1B, KRAS, NOTCH1, VEGFA

C0919267

Ovarian Neoplasm

HDAC6, CDKN1B, TUBB3, DLC1, YAP1, SRSF10, POP4, CTNNB1, CYP1B1, GADD45A, DOK1, EGFR, ERBB2, EREG, AKT1, FASN, RRAS2, SULF1, FOLR1, ANXA3, XIAP, BIRC5, IL6, IL6ST, CXCL8, AQP3, AREG, KRAS, EPCAM, MET, MKI67, MLH1, MSH2, MYC, ATF3, PARK2, PIK3CA, BNC2, PPP1CC, MAPK1, MAPK3, KLK10, PRTFDC1, PTEN, RAD51C, RAD51D, SKP2, SLC2A1, SLC5A5, SMARCA4, SOD2, SPARC, BRCA1, BRCA2, STAT3, ZEB1, TLR4, TYMS, CAV1, URI1, TNFSF10, CCND2, SELENBP1

C0949595

Gonadal Dysgenesis, 46,Xx

FSHR, PSMC3IP, BMP15

C0950121

Denys-Drash Syndrome

WT1

C0950122

Frasier Syndrome

WT1

C1140680

Malignant Neoplasm Of Ovary

CTNNB1, PIK3CA, BRCA1, BRCA2, MLLT10

C1306214

Acth-Secreting Pituitary Adenoma

GNAS, BMP4, AIP

C1563719

Kallmann Syndrome 1

ANOS1

C1563720

Kallmann Syndrome 2 (Disorder)

FGFR1

C1567257

Granulosa Cell Cancer

DICER1

C2748895

Ovotesticular Disorders Of Sex Development

SOX9

C2751824

46, Xy Disorders Of Sex Development

CYP11A1, LHCGR

C2936346

22Q11 Deletion Syndrome

COMT, GP1BB, TBX1, HIRA, UFD1L