| UMLS CUI |
UMLS Term |
Proteins |
|
C0013238
|
Dry Eye Syndromes
|
TGFB1
|
|
C0013261
|
Duane Retraction Syndrome
|
CHN1
|
|
C0013264
|
Muscular Dystrophy, Duchenne
|
POSTN,
DMD,
CCL2,
TGFB1,
CD4
|
|
C0013274
|
Patent Ductus Arteriosus
|
AGTR1,
PTGIS,
TRAF1
|
|
C0013295
|
Duodenal Ulcer
|
PLA2G4A,
PTGS2,
TGFB1
|
|
C0013312
|
Dupuytren Contracture
|
EPDR1,
TIMP2,
WNT2
|
|
C0013336
|
Dwarfism
|
PLK4,
HAPLN1,
ORC1
|
|
C0013362
|
Dysarthria
|
NPC1,
PDE8B
|
|
C0013364
|
Dysautonomia, Familial
|
IKBKAP
|
|
C0013374
|
Dysgammaglobulinemia
|
IGKC
|
|
C0013384
|
Dyskinetic Syndrome
|
DRD2
|
|
C0013386
|
Dyskinesia, Drug-Induced
|
DRD2,
FOSB,
PENK,
TH,
CCK,
HOMER1
|
|
C0013393
|
Dysostoses
|
ACTB
|
|
C0013404
|
Dyspnea
|
NPPB
|
|
C0013421
|
Dystonia
|
CYP2D6,
TOR1A,
CIZ1,
THAP1,
ACTB,
SCP2,
TH,
PRKRA
|
|
C0013447
|
Ear Diseases
|
SLC26A2
|
|
C0013473
|
Eating Disorders
|
FLNB
|
|
C0013502
|
Echinococcosis
|
ALB,
HBB,
TF
|
|
C0013575
|
Ectodermal Dysplasia
|
ITGB4
|
|
C0013581
|
Ectopia Lentis
|
FBN1,
ADAMTSL4
|
|
C0013595
|
Eczema
|
CD14
|
|
C0013604
|
Edema
|
GSR,
APOA1,
IL6,
CXCL8,
IL11,
INS,
KNG1,
POMC,
MAP2K6,
PTGS2,
SLC9A2,
TNF,
CASP8,
CASP9
|
|
C0013608
|
Edema, Cardiac
|
IFT122
|
|
C0013720
|
Ehlers-Danlos Syndrome
|
COL3A1
|
|
C0013902
|
Elliptocytosis, Hereditary
|
GYPC
|
|
C0013903
|
Ellis-Van Creveld Syndrome
|
EVC
|
|
C0013911
|
Emaciation
|
MGME1
|
|
C0013922
|
Embolism
|
PLAT
|
|
C0013990
|
Pathological Accumulation Of Air In Tissues
|
APOE,
SERPINA1,
PPP2R5A,
BICD1,
TP53,
KL
|
|
C0014067
|
Occipital Encephalocele
|
DACT1
|
|
C0014072
|
Experimental Autoimmune Encephalomyelitis
|
PPARA,
CBLB
|
|
C0014084
|
Enchondromatosis
|
IDH1,
IDH2,
PTPN11
|
|
C0014130
|
Endocrine System Diseases
|
CPE,
GNAS
|
|
C0014170
|
Endometrial Neoplasms
|
CDKN1C,
SRSF10,
CHD4,
CYP11A1,
DCN,
AKR1C1,
EP300,
ESR1,
ESR2,
EZH2,
JAZF1,
FGFR2,
AKR1B1,
SUZ12,
MLH3,
MSH6,
HOXA10,
HSD17B2,
BIRC5,
IGF1R,
CXCL8,
MAP3K4,
MTHFR,
PAWR,
PGR,
POLD1,
PLXNA3,
PTEN,
CCL2,
TSPYL2,
SRD5A2,
STAR,
ZEB1,
VEGFA,
SEMA3B,
ARID1A,
AKR1C3,
TNFSF10,
SOCS3
|
|
C0014173
|
Endometrial Hyperplasia
|
CDKN1C,
CSRP1,
PTEN
|
|
C0014175
|
Endometriosis
|
MED16,
PLXNC1,
ABCC4,
OLFM4,
TXNIP,
DEPP,
CNR1,
CPM,
VCAN,
CYB5A,
CYP19A1,
CYP26A1,
CD55,
AKR1C1,
AKR1C2,
DDX5,
DIO2,
HBEGF,
DUSP1,
EGFR,
ELAVL1,
ESR2,
FBLN1,
FBN1,
FKBP5,
DKK1,
AKR1B1,
FMO2,
NEDD4L,
DICER1,
ITGB3BP,
SLC7A8,
FOS,
LMOD1,
METTL7A,
ANKRD1,
GPX3,
MED4,
NR3C1,
MYLIP,
SLC40A1,
HDAC1,
HDAC2,
NR4A1,
HSD17B1,
HSD17B2,
TNC,
IFNGR1,
IGF1,
IGFBP1,
IGFBP6,
IL1R1,
IL7R,
ITGA2,
ITGB1,
ITGB8,
AREG,
KRAS,
LAMB1,
ARNT,
MIR21,
MAOA,
MAOB,
PAPPA,
KLF13,
ENPP1,
PGR,
PLA2G2A,
ERRFI1,
SULF2,
PRL,
ANKH,
PRLR,
PTGER2,
PTGER4,
PTGFR,
PTGS2,
ACTA2,
RGS4,
RORB,
SEPP1,
SLC20A1,
SRD5A1,
SRD5A2,
KLF9,
TAGLN,
NR2F2,
TGFB2,
THRA,
C1R,
TRH,
NDNF,
ARHGAP28,
SPARCL1,
STC2,
AKR1C3,
NCOA1,
NRP1,
CLDN1,
IL33,
MTA1,
SLC16A6,
CCNE2,
MED14,
MED17,
CXCL14,
NCOR1,
GREB1,
HS3ST3B1,
NR1D2
|
|
C0014324
|
Entamoebiasis
|
IL1B,
IL6,
IL10
|
|
C0014356
|
Enterocolitis
|
IL10
|
|
C0014474
|
Ependymoma
|
EPHB2,
RELA
|
|
C0014518
|
Toxic Epidermal Necrolysis
|
HLA-B
|
|
C0014522
|
Epidermodysplasia Verruciformis
|
TMC6
|
|
C0014527
|
Epidermolysis Bullosa
|
ITGB4
|
|
C0014544
|
Epilepsy
|
STAMBP,
CHD2,
CHRM2,
CHRM3,
RAB39B,
AKT1,
ERN1,
ALB,
FLNA,
CAMSAP2,
FOLR1,
FOS,
FOSB,
GPX1,
GRIN2A,
ILK,
MAST4,
MEF2C,
MMP8,
NPY2R,
P2RX4,
POLG,
POMC,
PCDH19,
PTPRD,
BDNF,
SLC1A2,
SLC1A3,
SLC12A2,
TSC2,
TXNRD1,
VDAC2,
SPARCL1,
SYNGAP1
|
|
C0014547
|
Epilepsies, Partial
|
ADCY9
|
|
C0014548
|
Epilepsy, Generalized
|
CHRNA7,
JRK
|
|
C0014549
|
Tonic-Clonic Epilepsy
|
NES,
CYP2D6,
HBEGF,
FGF2,
NGF,
POMC,
BDNF
|
|
C0014550
|
Epilepsies, Myoclonic
|
PMP22,
POMC,
STXBP1
|
|
C0014553
|
Absence Epilepsy
|
JRK
|
|
C0014556
|
Epilepsy, Temporal Lobe
|
CNR1,
GRM3,
NPY2R,
P2RX4,
SLC12A2,
TEK,
VDR,
VEGFA,
TRPV1,
SLIT2
|
|
C0014742
|
Erythema Multiforme
|
MASP2
|
|
C0014804
|
Erythromelalgia
|
SCN9A
|
|
C0014805
|
Primary Erythermalgia
|
SCN9A
|
|
C0014848
|
Esophageal Achalasia
|
HLA-DQA1,
HLA-DQB1
|
|
C0014852
|
Esophageal Diseases
|
TRPV1
|
|
C0014859
|
Esophageal Neoplasms
|
CDH13,
LZTS1,
WIF1,
AKAP13,
ADH1B,
ADH7,
CRYAB,
CYP19A1,
CYP26A1,
EGFR,
ENO1,
ERBB2,
ALDH2,
MARCH8,
ALOX15,
GAPDH,
MLH3,
BBC3,
GNG7,
SFN,
CXCL2,
XIAP,
AQP3,
LGALS3,
MIR21,
MET,
MMP14,
MT1G,
NOS3,
GHRL,
PHB,
RPRM,
PTGS1,
PTGS2,
BAX,
BCL2,
ACTB,
RNF6,
SERPINB3,
SNAI2,
SOD2,
PRDX2,
TGFBR2,
TGM2,
TP53,
TPM1,
TPM4,
UCHL1,
CASP8,
RUNX3
|
|
C0014866
|
Esophageal Stenosis
|
SOD2
|
|
C0014868
|
Esophagitis
|
SOD2,
TRPV1
|
|
C0014869
|
Peptic Esophagitis
|
CXCL8
|
|
C0015230
|
Exanthema
|
HLA-B,
MVK,
C1QA
|
|
C0015306
|
Hereditary Multiple Exostoses
|
EXT1,
EXT2,
PTPN11
|
|
C0015379
|
Extravasation Of Diagnostic And Therapeutic Materials
|
IL1RN,
KNG1,
NR1H4
|
|
C0015393
|
Eye Abnormalities
|
JAG1,
SH3PXD2B,
APC,
NDST1,
IFT122,
BMPR1A,
TGFB2,
TGFBR2
|
|
C0015397
|
Disorder Of Eye
|
POMC
|
|
C0015398
|
Eye Diseases, Hereditary
|
PLK4,
LRP2,
INPP5E
|
|
C0015404
|
Eye Infections, Bacterial
|
CXCL8,
TLR2
|
|
C0015469
|
Facial Paralysis
|
POMC
|
|
C0015499
|
Factor V Deficiency
|
F5
|
|
C0015530
|
Factor Xiii Deficiency
|
F13A1,
F13B
|
|
C0015624
|
Fanconi Syndrome
|
GPX3
|
|
C0015625
|
Fanconi Anemia
|
ERCC4,
FANCD2,
FANCE,
FANCB,
FANCG,
UBE2T,
FANCI,
FANCM,
RAD51C,
BRCA2,
TNF
|
|
C0015672
|
Fatigue
|
TGFBR2
|
|
C0015695
|
Fatty Liver
|
NR1H3,
CEBPB,
PLIN2,
COL3A1,
CYP2E1,
CYP19A1,
F2,
F2R,
GPX1,
HADHB,
HHEX,
BIRC3,
APOB,
CXCL8,
INS,
LDLR,
LEP,
STS,
MYC,
SERPINE1,
CYCS,
POMC,
PPARA,
PPARD,
PTMA,
SOD2,
SREBF1,
TF,
TLR4,
TNF,
UCP2,
XBP1,
PNPLA3
|
|
C0015696
|
Fatty Liver, Alcoholic
|
PPARA
|
|
C0015702
|
Favism
|
G6PD
|
|
C0015799
|
Feminization
|
ESR1
|
|
C0015814
|
Femur Head Necrosis
|
POMC
|
|
C0015927
|
Fetal Death
|
PDGFRA
|
|
C0015934
|
Fetal Growth Retardation
|
COMT,
AGT,
LINC00908,
IGF1R,
IGF2,
NOS3,
ORC1
|
|
C0015951
|
Fetal Resorption
|
PRL
|
|
C0015967
|
Fever
|
TPH2,
FSHB,
IL1A,
IL1B,
IL6,
CXCL8,
MVK,
POMC,
PRL,
SOD2,
TNF
|
|
C0016037
|
Fibrodysplasia Ossificans Progressiva
|
ACVR1
|
|
C0016045
|
Fibroma
|
ANTXR2
|
|
C0016059
|
Fibrosis
|
ATP6AP2,
COL1A1,
COL1A2,
COL3A1,
ADRB2,
CYP19A1,
DCN,
AGT,
AKT1,
ALB,
ANGPT1,
HMOX1,
IL1B,
IL1RN,
LEPR,
MIR21,
PDGFB,
PIK3CG,
MAP2K7,
PTGS2,
SOD2,
STAT3,
TGFB1,
THBS1,
TNF,
PDGFD,
SPHK1,
CCND2
|
|
C0016063
|
Osteitis Fibrosa Disseminata
|
FOS,
TRIM37
|
|
C0016064
|
Fibrous Dysplasia, Monostotic
|
GNAS
|
|
C0016065
|
Polyostotic Fibrous Dysplasia
|
GNAS
|
|
C0016382
|
Flushing
|
ALDH2,
PTGS1
|
|
C0016412
|
Folic Acid Deficiency
|
DHFR
|
|
C0016427
|
Follicular Cyst
|
SCARB1
|
|
C0016470
|
Food Allergy
|
SLC11A1
|
|
C0016508
|
Congenital Foot Deformity
|
LMNA,
PTHLH
|
|
C0016667
|
Fragile X Syndrome
|
FMR1,
AFF2,
APP
|
|
C0016689
|
Freckles
|
EIF6,
BNC2,
TYR
|
|
C0016719
|
Friedreich Ataxia
|
FXN
|
|
C0016756
|
Fructose-1,6-Diphosphatase Deficiency
|
FBP1
|
|
C0016788
|
Fucosidase Deficiency Disease
|
FUCA1
|
|
C0016952
|
Galactosemias
|
GALE,
GALT
|
|
C0016978
|
Gallbladder Neoplasm
|
EGFR,
ERBB2,
ERBB3,
ERBB4,
KRAS,
BCL2,
TP53,
UCHL1
|
|
C0017097
|
Gardner Syndrome
|
APC
|
|
C0017154
|
Gastritis, Atrophic
|
IL1B
|