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
|