| 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 |