C0001125

Acidosis, Lactic

PDHA1, PLAT

C0001126

Renal Tubular Acidosis

SLC4A4

C0001627

Congenital Adrenal Hyperplasia

CYP17A1, CYP21A2, HSD3B2, AVPR2, PRKAR1A, PDE8B

C0002063

Alkalosis

AGT

C0002066

Alkaptonuria

HGD

C0002514

Amino Acid Metabolism, Inborn Errors

AHCY, GCLC, ALDH6A1, EIF2AK4, PRODH, XPC, SECISBP2, SLC7A7

C0002726

Amyloidosis

APOE, APP, PSEN1, TTR

C0002736

Amyotrophic Lateral Sclerosis

OPTN, SIGMAR1, OLFM4, PPARGC1A, ARAP2, METTL21A, DCTN1, DPP6, CENPV, C9orf72, ERBB4, KIFAP3, TARDBP, FUS, TNFRSF21, ANG, ANK3, TBK1, GSR, GSTP1, HNRNPA1, HOXD10, ITGA9, LAMA3, CHCHD10, NEFH, PFN1, PLA2G4A, PON1, PTGS2, ST3GAL3, SLC1A2, SLC6A1, SOD2, TIAM1, TP53, VCP, SLC25A12, INPP4B, SQSTM1, ARHGEF2, VAPB, B4GALT6, CD40LG, KIAA0513, MATR3

C0003868

Arthritis, Gouty

POMC

C0005859

Bloom Syndrome

BLM, UNG

C0005944

Metabolic Bone Disorder

CYP2R1, DHCR7, ESR1, GC, ANKRD11, IGF1, KCNMA1, LRP2, MMP2

C0006663

Calcinosis

COL1A1, DMD, AHSG, FCGR1A, ALPL, PYCARD, IL1B, IL18, ITGB1, ITGB2, JAK2, LCN2, LSP1, MMP2, MMP9, NOTCH1, PDGFB, PDGFRB, POMC, BGLAP, CCL2, SLC20A2, SPP1, TIMP1, C6, COL18A1, KL

C0007001

Carbohydrate Metabolism, Inborn Errors

PRKAG3

C0007570

Celiac Disease

SH2B3, DLEU1, TAGAP, NKAIN2, ETS1, FRMD4B, HLA-DQA1, HLA-DQB1, LPP, MYO9B, PPP1R12B, MYNN, ZMIZ1, ARHGAP31, PTPN2, BACH2, TGM2, WNT3, MMEL1, RUNX3, IL18R1, ELMO1

C0008384

Cholesterol Ester Storage Disease

LIPA

C0009405

Hereditary Nonpolyposis Colorectal Neoplasms

MLH3, MSH6, APC, EPCAM, MLH1, MSH2, TGFBR2

C0010691

Cystinuria

SLC7A9

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

C0011880

Diabetic Ketoacidosis

INS

C0012715

Iron Metabolism Disorders

FTL, HMOX1, TFRC

C0015624

Fanconi Syndrome

GPX3

C0015625

Fanconi Anemia

ERCC4, FANCD2, FANCE, FANCB, FANCG, UBE2T, FANCI, FANCM, RAD51C, BRCA2, TNF

C0016412

Folic Acid Deficiency

DHFR

C0016719

Friedreich Ataxia

FXN

C0016756

Fructose-1,6-Diphosphatase Deficiency

FBP1

C0016788

Fucosidase Deficiency Disease

FUCA1

C0016952

Galactosemias

GALE, GALT

C0017205

Gaucher Disease

CHIT1, ACE, SNCA

C0017919

Glycogen Storage Disease

PHKA2

C0017920

Glycogen Storage Disease Type I

G6PC

C0017921

Glycogen Storage Disease Type Ii

GAA

C0017922

Glycogen Storage Disease Type Iii

AGL, GBE1

C0017923

Glycogen Storage Disease Type Iv

GBE1

C0017924

Glycogen Storage Disease Type V

ACE, PYGM

C0017927

Glycogen Storage Disease Type Viii

PHKA2

C0018099

Gout

ALDH16A1, FGFR2, IL1B, CD14

C0018995

Hemochromatosis

SLC40A1, HFE, HP, SLC11A2, HAMP, BMP2, BMP6, TFR2, TNF

C0019151

Hepatic Encephalopathy

GC, MAOA, MAOB, PRKDC, TSPO, TNF

C0019202

Hepatolenticular Degeneration

AHCY, A2M, ANXA5, APOE, IL6, CXCL8, IL10, LOX, LOXL2, NDUFB7, PPP3CA, PRNP, HAMP, SNCA, TIMP1, TNF

C0019880

Homocystinuria

CBS

C0020437

Hypercalcemia

CYP27B1, IL6, TNFRSF11B, PTH, PTHLH, TNF, TNFSF11, KL

C0020443

Hypercholesterolemia

COL3A1, CTF1, ABCA1, EDN1, PCSK9, HMGCR, APOB, ICAM1, APOE, LDLR, LEP, LPL, MYLK, PON1, SELE, VCAM1, NR4A3

C0020445

Hypercholesterolemia, Familial

ABCA1, PCSK9, GHR, APOA2, APOA4, APOB, APOC3, APOE, LDLR, LPL, PON1

C0020456

Hyperglycemia

PRDX4, COL3A1, NQO1, FBN1, GCG, GPX1, HMGA1, HSD11B1, INS, INSR, LEPR, NOS3, PRKCB, PTGS2, SIM1, IRS2

C0020459

Hyperinsulinism

COL3A1, TSC22D3, FBN1, GCG, GPX1, HMOX1, INS, INSR, IRS1, LEP, LEPR, MC4R, NOS3

C0020461

Hyperkalemia

CYP17A1, INS

C0020473

Hyperlipidemia

PPARGC1B, ADRB2, ADRB3, GCG, APC, APOB, APOE, IRS1, LDLR, LEPR, LPL, NOS3, PPARA

C0020474

Hyperlipidemia, Familial Combined

LPL

C0020476

Hyperlipoproteinemias

APOC3, APOE, PON1, PPARA

C0020479

Hyperlipoproteinemia Type Iii

APOA5, APOE

C0020480

Hyperlipoproteinemia Type Iv

APOA5

C0020481

Hyperlipoproteinemia Type V

APOA5, LPL

C0020488

Hypernatremia

POMC

C0020557

Hypertriglyceridemia

APOA5, CRP, APOB, INS, LPL, PPARA, LMF1, ZPR1

C0020597

Hypobetalipoproteinemias

APOB

C0020598

Hypocalcemia

POMC, PTH

C0020615

Hypoglycemia

GSR, IGF2, IL1B, INS, SERPINA1, PPARA, SOD2, HNF1A, TNF, CACNA1C

C0020621

Hypokalemia

ADRB2, AGT, NR3C1, INS, NPPB, POMC

C0020625

Hyponatremia

TRPV4

C0020725

Type Ii Mucolipidosis

GNPTAB

C0021655

Insulin Resistance

CPE, CTF1, ADRB2, EGFR, AHR, GH1, GNAS, GPX3, HMGA1, HMOX1, NR4A1, ACACB, HSD11B1, IGFBP2, INS, INSR, IRS1, AR, KCNJ11, LEP, LEPR, STS, MC4R, NOS3, PIK3R1, PPARA, PPARG, PRKAA2, RETN, PTEN, TRIB3, SEPP1, SLC2A4, SOD2, SREBF1, SREBF2, TNF, C3, NR4A3, CASP1, ADIPOQ, CD36

C0022541

Kearns-Sayre Syndrome

IL1A, IL1B

C0022797

Adult Neuronal Ceroid Lipofuscinosis

CLN6

C0023264

Leigh Disease

MTFMT, NDUFAF6, DLD, ECHS1, NDUFA2, NDUFS2, NDUFS4, NDUFS8, TACO1, POLG, BCS1L, SDHA, NDUFAF5, NDUFAF2

C0023521

Globoid Cell Leukodystrophy

GALC

C0023522

Leukodystrophy, Metachromatic

ARSA

C0023772

Lipid Metabolism, Inborn Errors

DECR1, PRKAG3

C0023787

Lipodystrophy

PARP2, POLD1

C0023794

Lipoidosis

DEPP, AP1S1, SERPINA3, NUPR1, LSS, ASAH1, ASNS, PPARG, WIPI1, SCD, FNDC4, SLC2A3, TAGLN, NR0B2, FADS2

C0023801

Lipomatosis

PTEN

C0023806

Lipomucopolysaccharidosis

NEU1

C0023817

Hyperlipoproteinemia Type I

LPL

C0024523

Malabsorption Syndrome

SLC46A1

C0024748

Alpha-Mannosidosis

MAN2B1

C0024776

Maple Syrup Urine Disease

DBT, DLD, BCKDHA, BCKDHB

C0025517

Metabolic Diseases

CRP, AHR, ESRRA, ETFDH, INS, PPARG

C0025521

Inborn Errors Of Metabolism

DHFR, LDHB, LEPR, MYO5B, PLA2G4A, ABCD4, SLC2A1, TPI1, PLA2G7

C0026706

Mucopolysaccharidosis Iii

HGSNAT, GNS, NAGLU, SGSH

C0026707

Mucopolysaccharidosis Iv

GALNS

C0026709

Mucopolysaccharidosis Vi

ARSB

C0027709

Nephrocalcinosis

SLC26A1, POMC

C0027773

Nesidioblastosis

KCNJ11

C0027877

Neuronal Ceroid-Lipofuscinoses

TPP1, CLN3, ATP13A2, CLN6

C0028754

Obesity

GPC6, NAMPT, INADL, FARS2, CHL1, SDCCAG8, ALDH1L1, ADCY9, ADH1B, CNR1, PPARGC1B, COX7C, CPB2, CPE, SGCZ, CRP, PARP1, SERPINA12, CTF1, CTSS, CYB5A, ADRB1, ADRB2, ADRB3, CYP2E1, LINGO2, NQO1, DYNC1I1, DPYD, AGRP, ECHS1, EP300, ERBB3, AKT1, ESR1, ETFDH, ETV5, F2, ACSL1, FASN, IGSF9B, FOXO3, MPRIP, FBXL7, FTL, RICTOR, SH2B1, MOXD1, TENM4, GCG, GFPT1, GH1, AFF4, GNAS, GNB3, GPX1, GPX3, HADH, HMGB2, HMOX1, ACACB, HOXB5, HSD11B1, HTR2C, ICA1, ICAM1, FAM19A2, IFI16, APOE, IGF2, IGFBP2, IL6, INS, IRS1, ITPR1, ITPR3, KCNMA1, MIR99AHG, LDLR, LEP, LEPR, LPL, MIR21, STS, MC4R, MMP9, ALDH6A1, MTNR1B, PPP1R12B, NAP1L1, NCAM2, NPC1, NPY1R, NPY5R, NTRK2, SERPINE1, ARHGEF3, SPOCK3, PCDH9, PCK1, DCXR, PCSK1, ENPP1, GHRL, PFKFB3, PLIN1, CYCS, POMC, PPARA, PPARD, PPARG, PRKAR2B, MAP2K5, CYP26B1, INPP5E, CAMK1D, PTGS2, BDNF, SLC22A23, SAT1, SCNN1A, GPSM3, CSMD1, ATPAF1, SIM1, BMP2, NBEAL1, SLC22A1, SOD2, SREBF1, TF, TFRC, TNF, TNFRSF1B, TWIST1, UCP1, UCP2, UCP3, UQCRC2, VLDLR, TRPV1, CA3, CACNA2D1, FTO, PLEKHS1, CCDC33, ALPK1, AKAP1, CASP1, NR0B2, CCDC77, GAS7, KMO, AKR1C3, SUCLA2, ZPR1, SEMA5A, SLC16A7, DAPL1, ADIPOQ, CARTPT, SDC3, GREB1, ARHGAP11A

C0028756

Obesity, Morbid

KCNMA1, LEP, LEPR, PPARG, BDNF, UCP3

C0028860

Oculocerebrorenal Syndrome

OCRL

C0029456

Osteoporosis

TUBA1B, CCT2, TBC1D8, MGLL, OSBPL1A, ANTXR2, COL1A1, COL1A2, CYP19A1, ENO1, FGA, FGB, PGLS, GAPDH, GPD2, GPX1, ANXA2, IDH2, IL6, IL6R, LRP5, PNP, TNFRSF11B, ALDH7A1, OXCT1, P4HB, PKM, POMC, PSMA2, PTH, RAP1A, SOD2, TGFB1, TLN1, ACTG1, TPI1, TPM4, VDR, CA2, PDLIM4, TNFSF11, KL, WDR1

C0029458

Osteoporosis, Postmenopausal

COL1A2, IL1B, IL6, PTH, TGFB1, TNF

C0031485

Phenylketonurias

QDPR

C0032339

Rothmund-Thomson Syndrome

RECQL4

C0032897

Prader-Willi Syndrome

SNRPN

C0033300

Progeria

LMNA

C0033626

Protein Deficiency

GSR

C0033788

Pseudo-Hurler Polydystrophy

GNPTAB

C0033805

Pseudohypoaldosteronism

KLHL3, GNAS, SCNN1A, SCNN1G, WNK1

C0033806

Pseudohypoparathyroidism

GNAS