Search Diseases

Diseases

UMLS CUI UMLS Term Proteins

C0008149

Chlamydia Infections

TNF

C0008312

Primary Biliary Cirrhosis

PLCL2, TNPO3, IL12A, IL12RB1, TIMMDC1, MMEL1, FBXL20, ELMO1

C0008313

Cholangitis, Sclerosing

BCL2L11, HIF1A, MST1

C0008350

Cholelithiasis

ABCG8

C0008370

Cholestasis

NR1H3, MAPK14, CYP8B1, NQO1, EGR1, SLC51A, FGA, CXCL2, ICAM1, IGF1, IL6, CXCL8, SERPINE1, SERPINA1, POMC, MAPK13, RDX, RELA, TNF, NR1H2, VCAM1, HSD3B7, SLC23A2, NR1H4

C0008372

Intrahepatic Cholestasis

AP1S1, EGR1, MAF, MAFG, ATP8B1, TJP2

C0008384

Cholesterol Ester Storage Disease

LIPA

C0008479

Chondrosarcoma

EXT1

C0008489

Chorea

NKX2-1

C0008495

Chorioamnionitis

IL1A

C0008525

Choroideremia

CHM

C0008625

Chromosome Aberrations

CDK6, EPAS1, ERCC1, POT1, GSTM1, GSTP1, GSTT1, MYCN, XPC, XRCC4

C0008626

Congenital Chromosomal Disease

POT1

C0008677

Bronchitis, Chronic

FAM13A, CSMD1, VEGFA, CD151

C0008780

Ciliary Motility Disorders

DNAH5, IFT122, INPP5E

C0008924

Cleft Lip

SPRY2, MTHFS, FGF2, FGF7, FGF9, FGFR1, FGFR2, IRF6, MTHFR, MTR, MYC, NOS3, PTCH1, SLC19A1, TYMS, MAFB

C0008925

Cleft Palate

SPRY2, MTHFS, DLG1, FGF2, FGF7, FGF9, FGFR1, FGFR2, IRF6, MNT, MTR, MYC, NOS3, PDGFRA, BNC2, PTCH1, SIM2, SLC19A1, TGFB1, TGFB2, TYMS, FZD4, CASK, CBFB

C0008928

Cleidocranial Dysplasia

RUNX2

C0009081

Congenital Clubfoot

MTHFR

C0009197

Cochlear Diseases

MPV17

C0009241

Cognition Disorders

COMT, DRD2, EIF2S1, FMR1, AFF4, APOE, IGF2, APP, SMAD4, MET, OXTR, PTGS2

C0009319

Colitis

NAMPT, ALOX5, GCG, HMOX1, IGF1, IL1B, IL6, IL10, MIF, MPO, GHRL, PTGS2, RELA, ADAM17, TIMP3, TNF

C0009324

Ulcerative Colitis

ARPC2, IKZF1, PROCR, MASP2, CHP1, DAP, FCGR2A, NR5A2, GNA12, HLA-DQA1, HLA-DRB1, ICAM1, IL1B, IL7R, CXCL8, CXCR2, IL10, JAK2, LAMB1, LSP1, MMP9, MPO, MST1, MUC3A, NFKB1, GHRL, PLCL1, GSDMB, PTPN2, PTPRC, RELA, CFB, CCL20, SLC11A1, STAT3, TNF, VCAM1, IL1R2, MAML2, PSMG1, RIPK2, SPHK1

C0009363

Congenital Ocular Coloboma (Disorder)

ABCB6, YAP1, LAMB1, ALDH7A1, ACTB, SALL2, ACTG1

C0009375

Colonic Neoplasms

CDKN1A, CRYAB, CTNNB1, CYP26A1, DMBT1, DNMT1, DPYD, TYMP, EGFR, A2M, ERBB2, ALDH1B1, FBP1, PLCB1, FOLR1, ALOX5, GAP43, GCG, APC, HES1, HSPB1, BIRC5, ICAM1, ID3, IGF2, IGFBP1, IL1B, IL1RN, JUN, KCNH2, KRAS, LEP, LPL, MAOB, MCM2, MKI67, MMP9, MTHFR, MYC, NFKB1, NOTCH1, ODC1, NOX4, PARK2, PCNA, SERPINB5, PPARG, XAF1, MAP2K6, RHOJ, PTGS2, NDRG2, BAX, ACTA2, BCL2, RELA, S100A4, S100A9, CCL20, SLC2A1, SLC19A1, SLC22A1, SOD2, SPARC, STAT3, TAGLN, TCF7L2, TCF19, TGFBR2, TNF, TP53, TPM3, ACTG2, TYMS, UMPS, VEGFA, WT1, CACNA2D1, RECK, LGR5, CBR1, TNFSF10, CCND2, IL32

C0009376

Colonic Polyps

ALOX5, ILK, TRPM7

C0009398

Color Vision Defect

ATF6

C0009404

Colorectal Neoplasms

CDH5, ABCC5, ABCB6, NAMPT, ABCC4, ABCA8, GPNMB, POSTN, POLD3, CFTR, WIF1, TP53TG1, ADH1B, HAPLN1, CTNNB1, CYP1B1, CYP2A6, DHFR, NQO1, DPYD, TYMP, ABCA1, EGFR, FLCN, EP300, ERCC2, AKT1, EYA4, ESR2, ALDH2, FAT1, FBLN2, FBN2, EFEMP1, RNF182, FEN1, PPM1E, FLNC, ABCB10, ABCA6, ABCA5, GATA4, GREM1, MLH3, CPAMD8, GPX4, GRIN2A, PYCARD, GSTM1, GSTM3, NT5C, APC, BIRC5, IGF2, IGFBP3, IL6ST, CXCL8, KRAS, FADS1, ARNT, MIR93, SMAD4, SMAD7, MKI67, MLH1, MMP1, MMP2, ABCC1, MSH2, MTHFR, NME1, NRAS, NRCAM, NR4A2, ODC1, EVL, SERPINB5, PIK3CA, PLA2G2A, POLD1, POLE, PPARG, XAF1, TRPM7, PRKCB, PRKD1, ZMIZ1, PTGS2, PTPRD, PTPRJ, ABCD3, ABCD4, LGR6, BCL2, ABCE1, RRM2, SEPP1, SFRP1, SFRP4, SFRP5, SOX17, SCG5, BMP4, SLC19A1, SOD2, SPARC, FOXL2, AURKA, TCF7L2, BUB1B, TFRC, TGFB1, TGFBR1, TK1, TLR2, TLR4, TNF, TP53, TXNRD1, TYMS, UMPS, UNG, PAX8, TFPI2, CALR, CASP8, TNFSF13, TNFSF10, GGH, SELENBP1, EXO1, DCLK1, CD9, FADS2, PPP1R14A, STARD8

C0009405

Hereditary Nonpolyposis Colorectal Neoplasms

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

C0009421

Comatose

CYP2D6, GCG

C0009447

Common Variable Immunodeficiency

NFKB1, PRKCD, CD81, LRBA

C0009759

Conjunctival Diseases

DAPK1

C0009806

Constipation

GCG, POMC, PON1

C0009917

Contracture

PRG4, ANTXR2

C0009952

Febrile Convulsions

IFI44L, CD46

C0010034

Corneal Diseases

IGF1

C0010038

Corneal Opacity

JAG1, SLC4A4

C0010043

Corneal Ulcer

NGF, SERPINF1

C0010051

Coronary Aneurysm

MICA, GJA1

C0010068

Coronary Heart Disease

ADAMTS7, ACE, ESR2, ALDH2, ANKS1A, MTHFD1L, HECTD4, APOB, APOC3, APOE, IL6R, LDLR, LIPA, LPL, SMAD3, MTHFR, PPP1R12B, ATP2B1, PECAM1, PLAU, PON1, CNNM2, TMEM57, WDR12, UBE2Z, SLC22A3, SMARCA4, HNF1A, TCF21, VKORC1, PLA2G7, PSRC1, PLPP3, DNAH11, ZPR1, CD36

C0010072

Coronary Thrombosis

ITGB3, PLAT

C0010073

Coronary Artery Vasospasm

NOS3, PON1

C0010074

Coronary Vessel Anomalies

GCLC

C0010200

Coughing

ACE, KNG1

C0010246

Coxsackievirus Infections

SIVA1, SLC22A3, SLC22A5

C0010273

Craniofacial Dysostosis

FGFR2

C0010276

Craniopharyngioma

CTNNB1

C0010278

Craniosynostosis

ERF, EZH2, FGFR2, IFT122, WDR35, BMP2, TCF12, TWIST1

C0010308

Congenital Hypothyroidism

DUOX2

C0010314

Cri-Du-Chat Syndrome

SEMA5A

C0010346

Crohn Disease

PHTF1, TAGAP, CLN3, CRP, SBSPON, JAZF1, FN1, FPR2, FUT2, PTPN22, PTRF, HLA-DRB1, IFNGR2, IGF1, IL6, IL10, LEP, SMAD3, C5orf56, MST1, NCF4, CD244, PPARA, PPARG, CDKAL1, ITLN1, PSMB10, ZMIZ1, SLAIN2, PTPN2, BACH2, SLC22A23, CCL2, THADA, ERAP2, SLC11A1, STAT3, TLR4, TNF, VTN, ANKRD55, CPEB4, RSPO3, RNASET2, SOCS1, SKAP2, MAGI1, ADIPOQ, FCHSD2, NR1H4

C0010417

Cryptorchidism

CHRM3, GPX4, HSD3B2, INSL3, ATRX

C0010481

Cushing Syndrome

POMC, PRKAR1A

C0010520

Cyanosis

ADRA2B, CYB5R3, HBB, TGFB2

C0010606

Adenoid Cystic Carcinoma

MORF4L1, CREBBP, VCAN, DAPK1, JAG1, EP300, FAT1, JMJD1C, FOXO3, MGA, RBFOX2, ASPM, GAS6, MYCBP, UHRF1, HIST1H1E, IGFBP2, ITGB4, MARCKS, MYBL1, MYCN, NFIB, NOTCH1, ISYNA1, DTL, GINS2, ARID4B, SERPINF1, PIK3CA, BCL11A, ATRX, MAML3, CMTR2, PRKDC, MAP2K2, PTEN, SLC24A3, PYGB, KMT2C, BCORL1, ST3GAL4, SMARCA2, SON, SOX4, BRCA1, TOP2A, TP53, KDM6A, KAT6A, WNT5B, NETO2, SMC1A, ARID1A, ARID5B, MAGI1, FOXP2, HOMER3, ESPL1, MAGI2, TLK1

C0010674

Cystic Fibrosis

CFTR, CLCA4, SCNN1A, SCNN1G, TGFB1

C0010691

Cystinuria

SLC7A9

C0010692

Cystitis

IL11, NGF, POMC, RELA

C0010701

Phyllodes Tumor

FLNA, MED12

C0010709

Cyst

PKD1

C0010964

Dandy-Walker Syndrome

FOXC1

C0011053

Deafness

JAG1, SMAD4, MITF, POLD1, BDNF

C0011057

Hearing Loss, Sudden

MTHFR

C0011065

Cessation Of Life

APOA1

C0011071

Sudden Death

ACE, AGT

C0011168

Deglutition Disorders

MEGF10

C0011195

Dejerine-Sottas Disease (Disorder)

EGR2, PMP22

C0011269

Dementia, Vascular

SYK

C0011303

Demyelinating Diseases

IGF1, PMP22, TP53

C0011311

Dengue Fever

CD209

C0011334

Dental Caries

CDKN3, RPS6KA2

C0011436

Dentinogenesis Imperfecta

DSPP

C0011570

Mental Depression

RORA

C0011581

Depressive Disorder

TPH2, ALB, ACSL4, FGF2, FGFR1, CADM1, FTH1, FTL, GLO1, GNB1, NR3C1, GSK3B, HTR7, IL6, MIF, MTHFR, NPY1R, GHRL, POMC, PON1, PTGS2, BDNF, S100A10, SNAP25

C0011603

Dermatitis

PARP1, HLA-B, HLA-DQA1, ITGB2, PLA2G4A, ZFP36

C0011609

Drug Eruptions

CYP1A1, CYP2E1, ALOX5, HLA-B, HLA-DQB1, APOA1, APOC3, IL18, KNG1, MPO, MTHFR, C4B, TTR

C0011615

Dermatitis, Atopic

KIF3A, CCDC80, HLA-B, IL1B, IL6, IL10, PBX2, PPARA, RNF111, MAPK8, EMSY, S100A8, CCL5, GPSM3, SELE, SLC11A1, TNXB, IL18R1, VNN1, IL33

C0011616

Contact Dermatitis

KIF2C, CTGF, CTSS, CYP1A1, CYP1B1, AKR1C2, DDIT3, NQO1, DUSP1, AHR, FABP4, SLC7A11, FTH1, G6PD, GCLC, GSR, GSTP1, NRG1, HLA-DMA, HMOX1, HSPB1, HSP90AA1, IGFBP2, IGFBP6, IL18, LCN2, MMP8, MMP10, NQO2, PSMD12, BCL2, S100A8, SAA1, SERPINB3, SERPINB4, SOD3, TLR4, TXN, TXNRD1, VEGFA, CASP8, CLDN1, CXCL14, PRDX6, CD44, HDAC4

C0011633

Dermatomyositis

HLA-B, IL1A, IL1B, TNF

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

C0011989

Camurati-Engelmann Syndrome

TGFB1

C0011991

Diarrhea

IL1A, IL1RN, MYO5B, CD14

C0012236

Digeorge Syndrome

COMT, CRKL, GP1BB, TBX1, HIRA, UFD1L

C0012242

Digestive System Disorders

ALDH1A2

C0012243

Digestive System Neoplasms

GHSR, TYMS

C0012715

Iron Metabolism Disorders

FTL, HMOX1, TFRC

C0012739

Disseminated Intravascular Coagulation

F2, SERPINC1

C0013069

Double Outlet Right Ventricle

ZFPM2

C0013080

Down Syndrome

DSCR3, CCT8, ADAMTS5, CYYR1, RCAN1, ETS2, MORC3, GABPA, C2CD2, GART, N6AMT1, GSTM2, DONSON, IFNAR1, IFNAR2, IFNGR2, APP, CXCL8, IL10RB, MIR155, MTHFR, MTR, NCAM2, ATP5O, BRWD1, MIS18A, CLIC6, MRAP, MAP3K7CL, BACH1, SCAF4, JAM2, S100B, PRDM15, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SON, PRDX2, TIAM1, TTC3, WRB, TMEM50B, CHAF1B, RUNX1, PSMG1, CBR1, SYNJ1, PAXBP1, ADAMTS1, PRDX6, CRYZL1

C0013182

Drug Allergy

POSTN, ADORA1, CYP2C9, ACE, GSTM1, GSTP1, HLA-B, HLA-DRB1, HNMT, HSPA1A, HSPA1L, IL10, PTGER3, PTGS1, TNF