| 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 |