C0004045

Asphyxia Neonatorum

PSEN1, PSEN2, PTGS2, SOD2

C0004096

Asthma

RAD50, CDK2, VAV3, KIF3A, ADCYAP1R1, WDR36, PARP1, ADRB2, SLC30A8, NQO1, DNAH5, DNMT1, EDN1, ERBB4, ALDH2, FBXL7, CRB1, ALOX5, GAB1, GSDMA, GSTM1, GSTP1, HLA-DPA1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMOX1, HNMT, HSD11B2, TNC, ICAM1, IL1B, IL1RN, IL6R, AREG, KRT19, SMAD3, MMP9, MMP10, PBX2, KLHL5, PDE4D, PLAU, GSDMB, PSAP, PTEN, BCL2, RORA, BGLAP, CCL2, CCL5, IKZF4, PMEL, SLC22A5, SPRR2B, TGFB1, TIMP3, TLR1, TNF, TNS1, VEGFA, PLA2G7, IL18R1, IL33, IL1RL1, CD14, CXCL14

C0004114

Astrocytoma

NDRG1, ESR1, ESR2, FGFR1, HEY1, LATS2, HIF1A, AR, KRAS, MMP9, NOTCH1, NOTCH2, NTRK2, PTPN11, TP53, NCOA3, ACVR1, LATS1

C0004134

Ataxia

EGR3, ARCN1, NPC1, SLC2A1

C0004153

Atherosclerosis

ABI2, CRP, PARP1, AGT, ABCA1, AHR, ESR1, ALOX5, ALOX15, GSTM1, HP, HRH1, HSPA1B, APOA4, ICAM1, APOE, IGF2, IL6, LDLR, MMP1, NOS3, NPC1, SERPINE1, PLA2G2A, PLAT, PON1, PPARG, PTGS2, CCL2, CCL3, CCL4, SOD2, STAT3, TLR4, TNF, VCAM1, VEGFA, TRPV1, SOCS3, ADIPOQ

C0004238

Atrial Fibrillation

ACE, DES, EDN1, ESR2, SYNE2, MTHFR, ZFHX3, NOS3, NPPB, SELE, VWF, AOPEP, CAV1, CAV2

C0004245

Atrioventricular Block

GNAI2

C0004310

Auditory Perceptual Disorders

CHRNA7

C0004352

Autistic Disorder

ADA, ZMYND11, CHRNA7, RAB39B, AGAP1, TPH2, COMT, ADM, PTCHD1, MACROD2, CNTN4, ADRB2, ADSL, CYP19A1, DAB1, DHCR7, DHFR, DLX2, ABAT, DPYD, EGR2, EXT1, ALDH1A3, REEP3, JMJD1C, NLGN1, VWA8, PASK, FMR1, CADM1, GABBR1, GABRA5, SEZ6L2, GHR, GJA1, GLO1, GPX1, GRIN2A, STXBP6, GRM8, GSTM1, GSTP1, SLC40A1, HDLBP, HLA-A, HLA-DRB1, HOXA1, APC, IGF1, IGF2, IGFBP3, IL1RN, IL6, IL10, ACADSB, INPP1, AR, ITGB3, KCNMA1, LAMB1, LEP, ASIC2, MAOA, MAOB, MARK1, MEF2C, MET, MIF, MTF1, MTHFR, MYO1D, NPAS2, NRAS, NRCAM, NTRK2, OXTR, SERPINE1, CNTN3, PARK2, TRIM33, PECAM1, PER1, PIK3CG, PLA2G4A, PLAUR, MBD3, POMC, PON1, RBFOX1, AHI1, PRKCB, PRL, PRLR, PTEN, PTGS2, NLGN4X, PCDH10, CHD8, BCL2, ROBO2, RORA, RPL10, BDNF, SCT, ROBO3, SLC1A3, SLC6A8, SLC19A1, TF, TNFRSF1B, C4B, TSC2, UBE2H, VLDLR, WNT2, XDH, XPC, CACNA1C, SLC25A12, NRP2, SYNGAP1, MBD4, TAF1C, RNF8, SEMA5A, NRXN1, FOXP2, GABBR2, CUL7, FARP2

C0004364

Autoimmune Diseases

COPA, F8, FCGR2B, PTPN22, HMGCR, HP, FAS, IL6, PECAM1, PF4, B2M, SOD2, STAT3, C1S, C4B, CD28, CD40LG

C0004509

Azoospermia

CFTR, BCL2

C0004604

Back Pain

PLAT

C0004610

Bacteremia

TIRAP, PLAT

C0004698

Balkan Nephropathy

TP53

C0004763

Barrett Esophagus

CDH13, CYP26A1, HGF, CXCL8, MCL1, PPARG, RPRM, PTGS2, RELA, ALDH1A2

C0004775

Bartter Disease

CLCNKB

C0004779

Basal Cell Nevus Syndrome

GLI2, SUFU, PTCH1

C0004782

Basal Ganglia Diseases

CYP2D6, DRD2, PDGFB, PDGFRB, PRL, SLC20A2, PDE8B

C0004903

Beckwith-Wiedemann Syndrome

CDKN1C, KCNQ1OT1, H19, IGF2

C0004936

Mental Disorders

COMT, MAOA, POMC, TRPC6

C0004943

Behcet Syndrome

HLA-B, APOA1, APOB, ICAM1, CXCL8, IL10, IL12A, ITGB2, SERPINE1, ERAP1, TLR4, C4A, KLRC4

C0005129

Bernard-Soulier Syndrome

GP1BB

C0005138

Berylliosis

ACE, GCLM, HLA-DPB2, HLA-DRB1, IL6, TGFB1, TNF, CD28

C0005283

Beta Thalassemia

DHODH, HBB, LCN2, HAMP, TFR2, TFRC, UMPS, CAD

C0005396

Bile Duct Neoplasms

EGFR

C0005411

Biliary Atresia

GPC1, HAMP

C0005426

Biliary Tract Neoplasm

ELF3

C0005586

Bipolar Disorder

CPLX2, MGAT4A, COMT, NCAN, ADRBK2, DGKH, PRSS35, TENM4, LAMP3, TRIM42, ANK3, NR3C1, GSK3B, INS, MTHFR, NDUFV2, NTRK1, NTRK2, SERPINA1, POMC, BDNF, S100B, SLC5A3, SNAP25, TCF7L2, TRPC3, CACNA1C, CACNB3, TOP6BL, MCTP1, LMAN2L, NUMB, CTSF, CDC25B

C0005612

Birth Weight

ADRB1, LCORL, LINC00908, HFE, MBL2, ENPP2, PON1, CDKAL1, HMGA2

C0005683

Urinary Bladder Calculi (Disorder)

AHR

C0005684

Malignant Neoplasm Of Urinary Bladder

TACC3, KRAS, LSP1, CDKAL1, PAG1, MYNN, RB1, SLC14A1, CLPTM1L

C0005686

Urinary Bladder Diseases

RASSF1, CHRM3, INS, TIMP3

C0005694

Bladder Neck Obstruction

PTGS2

C0005695

Bladder Neoplasm

CDKN1A, TACC3, RASSF1, GSTO2, CREBBP, NCAN, NQO1, TYMP, EGFR, ENO2, EP300, ERCC2, ERCC4, ESR1, ESR2, AMFR, GPX1, GSTM1, GSTP1, GSTZ1, HOXA9, BIRC3, IGF1, IGFBP3, IGFBP5, FAS, CXCL8, AQP3, KRAS, KRT16, RHOA, LAMA2, LIG1, LOXL1, MPO, MT2A, MT3, MTHFR, MYC, ASAP1, ATP5D, ANKFY1, ASXL2, PRSS3, AS3MT, PTGS2, KMT2C, RB1, SLC19A1, SOD2, TFRC, TNF, TP53, KDM6A, TRPV1, PRDM2, CLPTM1L, SMC1A, ARID1A, LOXL4, GGH, APOBEC3B, NCOR1, RALGPS1, ESPL1, HDAC4

C0005697

Neurogenic Urinary Bladder

CHRM2

C0005699

Blast Phase

BCR

C0005758

Bulla

ADAM17

C0005779

Blood Coagulation Disorders

F2, F5, GGCX, GNAQ, HMOX1, SERPINC1, VKORC1

C0005818

Blood Platelet Disorders

PLA2G4A

C0005859

Bloom Syndrome

BLM, UNG

C0005910

Body Weight

MC4R, PCSK1, POMC, CDKAL1, MAP2K5, BDNF, KLF9, FTO, SEC16B

C0005940

Bone Diseases

JAG1, LTBP3, MMP2, ALDH7A1, TRPV4, BMP2, TGFBR2

C0005941

Bone Diseases, Developmental

KIF3A, DLX5, SLC26A2, NIPBL, AFF4, SH3PXD2B, IGF2, MIR17HG, PCSK5, TMCO1, TGFB2, TRPS1, CBFB, ITGB1BP1

C0005942

Bone Diseases, Endocrine

PDGFA, PTH

C0005944

Metabolic Bone Disorder

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

C0005956

Bone Marrow Diseases

NQO2

C0005967

Bone Neoplasms

MMP2, MMP9, PLAU, PLOD2, PTGS2, TGFBR2, NCOA3

C0005974

Bone Resorption

CYP19A1, AHR, CXCL2, TNFRSF11B, PTH, PTHLH

C0006079

Bowen'S Disease

PPARGC1A, TFAM

C0006111

Brain Diseases

LAMC3, STAMBP, CYP2A6, ALB, APP, MPO, TH, TSC2, TYMS, RNASET2

C0006118

Brain Neoplasms

CDK4, CYP2C9, DAPK1, EML4, PCNA, PON1, PTCH1, RELA, SOD2, SPP1, TGM2, VEGFA

C0006142

Malignant Neoplasm Of Breast

ZBED6, COL1A1, CTNNA2, NEK10, ERBB4, AKT1, FGFR2, TOX3, ITPR1, LSP1, MDM4, NBN, PDE4D, PEX14, PIGH, PIK3CA, ZMIZ1, RAD51, LGR6, SIAH2, BRCA1, BRCA2, TCF7L2, TGFBR2, FTO, ARHGEF5, MLLT10, RNF146, PRC1, ZC3H11A

C0006267

Bronchiectasis

CFTR, ICAM1, SERPINA1, TNF

C0006287

Bronchopulmonary Dysplasia

POSTN, STXBP5, IL1B, TXN

C0006413

Burkitt Lymphoma

BBC3, SALL3, ID3, MYC, PBX1, PC, PIK3R1, SMARCA4, TCF3, ARID1A

C0006625

Cachexia

CDH6, IL6, CXCL8, GHRL, PTGS2, PTHLH, TNF, ZFP36, CD27

C0006635

Cadmium Poisoning

GPX4, HTT, SEPP1

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

C0006845

Candidiasis, Chronic Mucocutaneous

TRAF3IP2, CLEC7A

C0007001

Carbohydrate Metabolism, Inborn Errors

PRKAG3

C0007117

Basal Cell Carcinoma

RGS22, GLI2, IL6, LINC-PINT, KRT17, SLC45A2, PTCH1, RASA1, TP53, TYR, XPA, CLPTM1L

C0007124

Noninfiltrating Intraductal Carcinoma

HIF1A, LDHB, SLC2A1, STAT5A

C0007129

Merkel Cell Carcinoma

MYC

C0007131

Non-Small Cell Lung Carcinoma

CDH13, NDRG1, RASSF1, XXYLT1, CYLD, CYP2E1, DAPK1, AKR1C1, NQO1, DUSP3, EGFR, ENO1, ENO2, ERBB2, ERCC1, FGF9, FGFR1, FHIT, KDM1A, FOXM1, FOXO3, CORO1C, MXRA5, PHGDH, GCLC, EML4, PYCARD, GSTM2, GSTP1, PSAT1, APC, HES1, BIRC5, IL6R, CXCL8, IL10, IRF1, ITGB1, AREG, KIT, KRAS, LGALS1, MDM2, MET, MMP1, MMP9, MMP11, MT3, MYC, ATF3, NRAS, OXTR, PRDX1, PGAM1, PIK3CA, PRR13, PPIA, VIMP, PTHLH, RAF1, RB1, RHEB, RRAD, RRM1, SDC4, SOD2, STAT3, TGFA, TP53, PHLDA2, UCHL1, VEGFA, PLBD1, CLPTM1L, CAMK2D, NCOA3, CASP8, RECK, OSMR, CD9, EIF4E2, ADAMTS1, CD74

C0007134

Renal Cell Carcinoma

NDRG1, CPQ, AKAP13, CRYAB, CTSB, CTSD, DAPK1, EEF2, FLCN, EPAS1, ERBB2, ALAD, ALDH1A1, PDZD2, SYNE2, PNKD, GSTM1, GSTP1, GSTT1, HARS, ANXA4, HSPB1, BIRC5, HSPD1, APRT, IL4R, IL6, IL6R, FAM111B, KCNMA1, KRT7, KRT8, LDHB, MET, MITF, MUC4, NF2, PEBP1, PDHB, PGK1, PIK3CA, POMC, PBRM1, AP5M1, FMN2, PTEN, PTGS2, SPTBN4, RELA, SLC2A1, SLC5A3, SOD2, TCEB1, HNF1A, TGM2, TP53, AHNAK, MLLT10, LMAN2L, CAPG, BAP1, TAGLN2, UNC5C, CRADD, TNFSF10, RPL14, ZNF765, ZNF804A, SCARB1, CUL7, ZEB2

C0007137

Squamous Cell Carcinoma

RACK1, CRYAB, CYP1B1, DSPP, EGFR, ENO1, ERCC2, AKT1, FGFR1, GAPDH, SFN, GPX1, PYCARD, GSTM1, ANXA1, ANXA2, HDAC1, HDAC2, ANXA5, HGF, HSPB1, IL6, CXCL8, AQP3, ITGA5, ITGB1, AREG, KRAS, KRT1, LGALS7, MAL, MET, MMP9, SLC45A2, PGAM1, PIK3CA, PPIA, MAPK1, MAPK3, PRTFDC1, PTGS2, PTK2, SERPINB3, SOD2, STAT3, STK11, TGFB1, TP53, TPI1, TSC2, TYMS, UMPS, VDAC2, VEGFA, SHFM1, NCOA3, KNSTRN, APOBEC3B

C0007138

Carcinoma, Transitional Cell

CDKN1A, TACC3, CREBBP, DAPK1, EP300, ESR2, AMBP, GPX1, IGFBP3, PLAU, PTGS2, KMT2C, TNF, TP53, KDM6A, VDR, ARID1A, GGH, NCOR1, ESPL1

C0007140

Carcinosarcoma

TGFB1, VIM

C0007177

Cardiac Tamponade

PLAT

C0007192

Cardiomyopathy, Alcoholic

AGT

C0007193

Cardiomyopathy, Dilated

TSFM, SIK1, ADRB1, ADRB2, DES, DMD, DSC2, DSP, EGFR, GPX1, FAS, ITGB1, KCNH2, LMNA, NPPB, WDR12, PSEN1, PSEN2, RAC1, RAF1, SDHA, CSRNP1, SLC22A5, SOD2, ACTC1, TMPO, TNNI3, TTN, ZBTB17, CD36

C0007194

Hypertrophic Cardiomyopathy

RASSF1, GAA, HSPB1, HSPD1, INS, MYC, MYL4, NDUFS1, NME1, POMC, MYL7, RAF1, TP53

C0007196

Restrictive Cardiomyopathy

TNNI3

C0007222

Cardiovascular Diseases

TOMM40, CRP, CST3, ADRB1, ACE, AGT, EDN1, ALB, RNF214, GH1, GPX1, HFE, HP, APOB, ICAM1, APOC1, APOC3, APOE, LDLR, LPL, MPO, MTHFR, NOS3, NPPB, PON1, PTGS2, CCL2, SELE, SLC12A2, TAGLN, VCAM1, VWF, CBS

C0007273

Carotid Artery Diseases

AGT, GSTP1, HMOX1, APOE, PLAU, CCL2, TP53, CD163

C0007274

Carotid Artery Thrombosis

ITGB3

C0007282

Carotid Stenosis

APOE

C0007286

Carpal Tunnel Syndrome

TTR

C0007302

Cartilage Diseases

COL11A2, EDN1, FGF14

C0007370

Catalepsy

CNR1, ADORA1, DRD2, AGT, FYN, GCG, NTS, POMC, PRL, TH, TRH, CCK

C0007528

Cecal Neoplasms

CTNNB1, KRAS

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

C0007621

Neoplastic Cell Transformation

OCLN, AKR1C1, AKR1C2, ENO2, EPAS1, ESR1, FN1, PHGDH, SLC40A1, NRG1, APC, IGBP1, IGF1R, IL6, IL7R, CXCL8, IRS1, JUN, KRT19, LGALS3, LOXL2, MIR25, MDM2, MITF, MMP9, MUC1, MYC, MYCN, NFKB1, NOTCH1, MAPK8, RAC1, BCL2, RELA, SLC2A1, SOD2, BRCA1, ZEB1, TFRC, TGFB1, ACTG1, TNFAIP3, TP53, VIM, WHSC1, WNT5A, CXCR4, LIN28A, AKR1C3, TSC22D1, CLDN1, ZEB2

C0007682

Cns Disorder

SOD2

C0007758

Cerebellar Ataxia

RPL27A

C0007760

Cerebellar Diseases

AHI1, CASK

C0007766

Intracranial Aneurysm

EDNRA, CNNM2, STARD13

C0007772

Intracranial Arteriovenous Malformation

IL6

C0007781

Intracranial Embolism And Thrombosis

PLAT, PLAU

C0007785

Cerebral Infarction

ADH1B, F2, F5, HBA1, NOS3, PLAT, PLAU

C0007786

Brain Ischemia

CEBPB, ADD3, PARP1, ACE, EGR1, ALB, F2, F5, BBC3, GPX1, HIF1A, ICAM1, IL1A, IL1B, IL1RN, IL6, IL10RB, IL12RB1, IL18, JUN, MMP9, MPO, MTHFR, NFKB1, PLAT, PLAU, CYCS, MAPK1, MAPK3, MAP2K1, PTGS2, RB1, RELA, BDNF, CCL2, CCL3, CCL4, SELE, SOD2, STAT3, TNF, TNFRSF1B, TP53, UCP2, CASP9, DYNLL1

C0007787

Transient Ischemic Attack

ADORA1, ILK, CYCS, BAD, NDRG2, SOD2, C3, CASP9

C0007789

Cerebral Palsy

POMC

C0007795

Diffuse Cerebral Sclerosis Of Schilder

POLG

C0007820

Cerebrovascular Disorders

EDN1, PLAU

C0007873

Uterine Cervical Neoplasm

CTNNB1, EGFR, ERCC1, HLA-DPB2, HES1, MTHFR, NOTCH1, NOTCH2, STAT3, WNT2, WNT5A, YY1, CLPTM1L, CASP8, APOBEC3B

C0007959

Charcot-Marie-Tooth Disease

DCTN1, DYNC1H1, SETX, KIF1B, HOXD10, DNAJB2, HSPB1, LAMA2, LMNA, PMP22, POLG, TRPV4, SBF1, REEP1, SH3TC2, ARHGEF10, MFN2

C0007965

Chediak-Higashi Syndrome

LYST

C0008073

Developmental Disabilities

STAMBP, CNTN4, DRD2, LRP2, NTRK2, PMP22, PTEN, SLC2A1, SLC6A8, DOCK8, SLC4A4, SLC33A1

C0008074

Child Development Disorders, Pervasive

LAMC3, CIRBP, PTCHD1, UPP2, DHCR24, DIO2, DLG4, DPP6, DPYD, HEY1, FOXP1, ANKRD11, GTF2I, HFE, ITGB3, MEF2C, MTNR1A, MTNR1B, OXTR, PCDH9, LRRN3, MKL2, NLGN4X, CHD8, RYR2, BDNF, SOX9, TBL1X, NRXN1