| UMLS CUI | UMLS Term |
Proteins |
C0027709 | Nephrocalcinosis |
SLC26A1, POMC |
C0027720 | Nephrosis |
NES, HPSE, DDIT3, DES, AGT, EDN1, ALB, F2, ICAM1, ITGB2, VIM |
C0027726 | Nephrotic Syndrome |
COL1A1, COL4A2, A2M, ALB, FGF2, HLA-DRB1, HSD11B2, SERPINC1, SERPINE1, SOD2, TF, TGFB1 |
C0027746 | Nerve Degeneration |
CDH2, CHRNA7, CNR1, ADORA1, ADRA1B, CTNNB1, EIF2S1, EPOR, ETS2, F2, FGF2, AGTPBP1, ATP13A2, GRN, APLP2, IGF1, APOE, IGF2, APP, LEP, ATXN3, NGF, NGFR, OTX2, PARK2, GHRL, PLAT, DDIT4, PPARG, MAPK1, MAPK3, PSEN1, BAX, BCL2, BDNF, SEPP1, SLC1A2, SLC18A2, SNCA, SOD2, TGFA, TH, TNF, TSC2, XDH, PANK2, CD4, CD9, CD44 |
C0027765 | Nervous System Disorder |
ADRB2, CYP2C9, DHFR, DPYD, FOXG1, FOS, ID3, ASCL1, MTHFR, ATF3, NFATC2, NGF, NOTCH1, SERPINE1, PENK, TTC19, PRODH, PTGS2, BDNF, SEPP1, SHMT1, SLC2A1, SLC18A2, SLC19A1, TNF, TYMS, CASP9 |
C0027773 | Nesidioblastosis |
KCNJ11 |
C0027794 | Neural Tube Defects |
SPINT2, FOLR1, GLI3, INS, MTHFD1, MTHFR, NPY1R, GHRL, RRM1, CCL2, SKI |
C0027796 | Neuralgia |
NTRK1, GAL, SCN9A, TNF, CACNA2D1, CXCR4 |
C0027809 | Neurilemmoma |
SUZ12, WT1 |
C0027819 | Neuroblastoma |
YAP1, KIF1B, GNAS, HGF, KRAS, CASC15, MET, MYC, MYCN, NME1, NRAS, NTRK1, NTRK2, HSD17B12, ATRX, ARID1B, HACE1, PTPN11, BARD1, PINK1, AURKA, TH, TOP2A, SEMA3B, DOCK8, ARID1A, RASSF5, TNFSF10 |
C0027830 | Neurofibroma |
SUZ12 |
C0027831 | Neurofibromatosis 1 |
SPRED1, MSH2 |
C0027832 | Neurofibromatosis 2 |
NF2 |
C0027859 | Acoustic Neuroma |
NF2 |
C0027868 | Neuromuscular Diseases |
TRPV4, TPI1 |
C0027877 | Neuronal Ceroid-Lipofuscinoses |
TPP1, CLN3, ATP13A2, CLN6 |
C0027888 | Hereditary Motor And Sensory Neuropathies |
DYNC1H1, EGR2, PMP22 |
C0027889 | Hereditary Sensory And Autonomic Neuropathies |
DNMT1, NGF, NTRK1 |
C0027947 | Neutropenia |
DPYD, FCGR2B, IL1B, MTHFR, TPMT |
C0027960 | Nevus |
MTAP |
C0027962 | Melanocytic Nevus |
SUZ12 |
C0028326 | Noonan Syndrome |
KAT6B, KRAS, NRAS, MAP2K1, MAP2K2, PTPN11, RAF1, RASA2, RIT1, SOS1, SOS2 |
C0028433 | Nose Neoplasms |
MMP2 |
C0028754 | Obesity |
GPC6, NAMPT, INADL, FARS2, CHL1, SDCCAG8, ALDH1L1, ADCY9, ADH1B, CNR1, PPARGC1B, COX7C, CPB2, CPE, SGCZ, CRP, PARP1, SERPINA12, CTF1, CTSS, CYB5A, ADRB1, ADRB2, ADRB3, CYP2E1, LINGO2, NQO1, DYNC1I1, DPYD, AGRP, ECHS1, EP300, ERBB3, AKT1, ESR1, ETFDH, ETV5, F2, ACSL1, FASN, IGSF9B, FOXO3, MPRIP, FBXL7, FTL, RICTOR, SH2B1, MOXD1, TENM4, GCG, GFPT1, GH1, AFF4, GNAS, GNB3, GPX1, GPX3, HADH, HMGB2, HMOX1, ACACB, HOXB5, HSD11B1, HTR2C, ICA1, ICAM1, FAM19A2, IFI16, APOE, IGF2, IGFBP2, IL6, INS, IRS1, ITPR1, ITPR3, KCNMA1, MIR99AHG, LDLR, LEP, LEPR, LPL, MIR21, STS, MC4R, MMP9, ALDH6A1, MTNR1B, PPP1R12B, NAP1L1, NCAM2, NPC1, NPY1R, NPY5R, NTRK2, SERPINE1, ARHGEF3, SPOCK3, PCDH9, PCK1, DCXR, PCSK1, ENPP1, GHRL, PFKFB3, PLIN1, CYCS, POMC, PPARA, PPARD, PPARG, PRKAR2B, MAP2K5, CYP26B1, INPP5E, CAMK1D, PTGS2, BDNF, SLC22A23, SAT1, SCNN1A, GPSM3, CSMD1, ATPAF1, SIM1, BMP2, NBEAL1, SLC22A1, SOD2, SREBF1, TF, TFRC, TNF, TNFRSF1B, TWIST1, UCP1, UCP2, UCP3, UQCRC2, VLDLR, TRPV1, CA3, CACNA2D1, FTO, PLEKHS1, CCDC33, ALPK1, AKAP1, CASP1, NR0B2, CCDC77, GAS7, KMO, AKR1C3, SUCLA2, ZPR1, SEMA5A, SLC16A7, DAPL1, ADIPOQ, CARTPT, SDC3, GREB1, ARHGAP11A |
C0028756 | Obesity, Morbid |
KCNMA1, LEP, LEPR, PPARG, BDNF, UCP3 |
C0028768 | Obsessive-Compulsive Disorder |
BDNF, CCKBR |
C0028796 | Dermatitis, Occupational |
ALDH2, HLA-DMA |
C0028797 | Occupational Diseases |
CYP1A1, CYP2D6, NQO1, ERCC2, ALB, MPO, PON1 |
C0028840 | Ocular Hypertension |
DDIT3, NR3C1, MMP1 |
C0028860 | Oculocerebrorenal Syndrome |
OCRL |
C0028945 | Oligodendroglioma |
HEY1, POT1, HES1, IDH1, IDH2 |
C0028949 | Oligomenorrhea |
CYP17A1 |
C0028960 | Oligospermia |
CGA, PIWIL4, ESR1, DICER1, FSHB, BRWD1 |
C0028961 | Oliguria |
POMC, AVPR2 |
C0029089 | Ophthalmoplegia |
NPC1, MGME1 |
C0029106 | Opisthorchiasis |
CYP2A6 |
C0029172 | Oral Submucous Fibrosis |
MICA, COL1A1, COL1A2, CST3, FGF2, LOX, MMP1, MMP2, MMP9, PTGS2, TGFB1, TIMP1, TNF |
C0029295 | Oropharyngeal Neoplasms |
NDRG1 |
C0029396 | Heterotopic Ossification |
GNAS, CBFB |
C0029401 | Osteitis Deformans |
OPTN, NUP205, RIN3, TNFRSF11A, SQSTM1 |
C0029408 | Degenerative Polyarthritis |
PDCD6IP, EDIL3, SEC23A, DUS4L, CHI3L1, CLU, CLIC1, COL1A2, COL6A2, COMP, CTSD, AKR1C1, AKR1C2, DDX3X, DPYSL2, EEF2, ENO1, AK4, TRIM2, FTL, GAPDH, HIBCH, GNL3, GLS, CXCL2, IDH2, IL1B, GSTK1, LTBP3, SMAD3, NDUFS8, OPA1, PDHA1, ATP6V1B2, PLCD1, PLOD2, PPARG, PPP2R1A, PBRM1, PSMB1, TRPV4, ACTB, CXCL6, SDCBP, SDHA, SLC2A1, BMP4, BMP6, SOD2, TGM2, TXNRD1, VDAC2, EZR, VIM, TFPI2, GDF5, SUPT3H, RUNX2, ALDH1A2 |
C0029410 | Osteoarthritis Of Hip |
GDF5 |
C0029411 | Osteoarthropathy, Primary Hypertrophic |
HPGD |
C0029421 | Osteochondritis Dissecans |
ACAN |
C0029422 | Osteochondrodysplasias |
COL9A1, COL11A1, FLNA, HSPG2, SOST, TRPV4, BCL2, TRAPPC2, VEGFA |
C0029423 | Cartilaginous Exostosis |
PTPN11 |
C0029434 | Osteogenesis Imperfecta |
CRTAP, COL1A1, COL1A2, SPARC |
C0029445 | Bone Necrosis |
MMP2 |
C0029454 | Osteopetrosis |
CLCN7, TNFSF11 |
C0029455 | Osteopoikilosis (Disorder) |
LEMD3 |
C0029456 | Osteoporosis |
TUBA1B, CCT2, TBC1D8, MGLL, OSBPL1A, ANTXR2, COL1A1, COL1A2, CYP19A1, ENO1, FGA, FGB, PGLS, GAPDH, GPD2, GPX1, ANXA2, IDH2, IL6, IL6R, LRP5, PNP, TNFRSF11B, ALDH7A1, OXCT1, P4HB, PKM, POMC, PSMA2, PTH, RAP1A, SOD2, TGFB1, TLN1, ACTG1, TPI1, TPM4, VDR, CA2, PDLIM4, TNFSF11, KL, WDR1 |
C0029458 | Osteoporosis, Postmenopausal |
COL1A2, IL1B, IL6, PTH, TGFB1, TNF |
C0029463 | Osteosarcoma |
ADAMTS6, CYP3A4, ADAMTS17, DHFR, EGFR, EIF2S1, ESRRA, EZH2, BRD4, FOLR1, GSTP1, JUN, LOX, MIR93, MET, MYC, RB1, PRDX2, TP53, PHLDA2, VEGFA, TAF15, RUNX2, TNFRSF11A |
C0029464 | Osteosclerosis |
LTBP3 |
C0029927 | Ovarian Cysts |
COL11A1, CYP17A1, AGTR2, FGD2, ANG, GPR34, MFAP2, NFKB1, PARK2, PEX14, PTGER4, PTGS1, RPL5, SFRP4, NR2F1, TMOD1, CACNB3, NMT2 |
C0029928 | Ovarian Diseases |
CGA, CYP19A1 |
C0029944 | Drug Overdose |
AGT |
C0030193 | Pain |
CNR1, COMT, ADM, DRD2, EDN1, AKT1, ALB, PLCB1, HGF, NRG1, HRH1, HTR7, IL1RN, KNG1, PENK, POMC, TNF, TRH, TRPV1, CACNA2D1 |
C0030200 | Pain, Intractable |
CXCL8 |
C0030286 | Pancreatic Diseases |
ALB, HMOX1, LEPR, POMC, SPP1 |
C0030297 | Pancreatic Neoplasm |
CLPTM1, CNR1, CTNNB1, GADD45A, DPYD, TYMP, AHR, SLC29A1, EFEMP1, FGF13, PALLD, NR5A2, FOXP1, HIF1A, CXCL8, KRAS, LY6E, EPCAM, MMP9, MYC, PLAU, ATRX, PPARG, PTCH1, PTEN, PTGS2, PTHLH, RB1, SOD2, SPINK1, BRCA1, BRCA2, SSTR1, STAT3, STK11, TGFB1, TNF, TP53, TSC2, TYMS, VEGFB, WT1, TFPI2, TNFSF10, NRP1, CFLAR, CD44 |
C0030305 | Pancreatitis |
CFTR, CNR1, ALB, NUPR1, HGF, HLA-DQA1, HLA-DRB1, INS, LPL, MPO, PPP3CA, PRSS1, PTGS2, SPINK1, TRPV1, MORC4, CCK |
C0030312 | Pancytopenia |
SLC46A1, DHFR, RPL27A |
C0030319 | Panic Disorder |
COMT, INS, SDK2, ANO2, CCKBR |
C0030328 | Panniculitis, Nodular Nonsuppurative |
SERPINA1 |
C0030354 | Papilloma |
CDKN1A, NQO1, EGFR, ERBB2, ODC1, PTGS2, SOD2, TGFB1 |
C0030360 | Papillon-Lefevre Disease |
CTSC |
C0030421 | Paraganglioma |
SDHB |
C0030442 | Bulbar Palsy, Progressive |
SLC52A3 |
C0030491 | Parapsoriasis |
HLA-A, HLA-E |
C0030524 | Paratuberculosis |
F2, TF, C1R, C3, AOC3 |
C0030552 | Paresis |
PLAT |
C0030554 | Paresthesia |
INS, PMP22 |
C0030567 | Parkinson Disease |
GPNMB, CNTN1, COL13A1, CNKSR3, CYP2D6, CYP2E1, CYP17A1, BRINP1, NQO1, DRD2, EDN1, FBP1, FGB, ATP13A2, GPX1, GSTA4, GSTM1, GSTP1, HFE, HGF, HLA-DRA, HMOX1, HSPA1A, IGF1R, IGF2, IGF2R, IL6, INS, INSR, MAG, MAOA, MAOB, MAPT, MAP3K5, NGF, NSF, PARK2, TRAPPC2L, DDIT4, VPS35, MCCC1, SIPA1L2, RPL23A, RPS8, BDNF, SH3GL2, NUCKS1, PINK1, SLC18A2, SNCA, SOD2, SREBF1, TALDO1, TNF, WNT3, ZP3, CCDC82, RPL14, ZNF646 |
C0030569 | Secondary Parkinson Disease |
ATP13A2, PARK2, RGS2 |
C0030804 | Pemphigoid, Benign Mucous Membrane |
PTGER3 |
C0030805 | Bullous Pemphigoid |
HLA-DQB1, HLA-DRB1, CXCL8 |
C0030807 | Pemphigus |
C3 |
C0030846 | Penile Diseases |
POMC, ATRX, INPP5E |
C0030848 | Peyronie Disease |
TGFB1 |
C0030849 | Penile Neoplasms |
KRAS, PIK3CA, TP53 |
C0030920 | Peptic Ulcer |
EDN1, IL1B |
C0030922 | Peptic Ulcer Hemorrhage |
CYP2C9, AGT |
C0031030 | Periapical Periodontitis |
FGF2 |
C0031039 | Pericardial Effusion |
PLAT, PTGS2 |
C0031046 | Pericarditis |
PRG4 |
C0031090 | Periodontal Diseases |
CTSC |
C0031099 | Periodontitis |
CRP, NKAIN2, BIRC5, MMP9 |
C0031106 | Periodontitis, Juvenile |
CTSC |
C0031117 | Peripheral Neuropathy |
PARP2, ABCC5, FRY, CDK5, CDK7, ABCC4, MERTK, IFI44, NPC2, SMC2, IGF2BP3, TCFL5, LILRB1, PPARGC1A, DDX52, CHEK1, HELQ, MBD6, OSBPL6, TPP1, PARP1, ZNF385B, ADRB2, CDCA2, CYP8B1, CYP19A1, DAPK1, DCK, DDIT3, ZNF596, DYNC1I1, DPYD, ABCA1, EDN1, AHR, EPHX1, ERBB2, ERCC1, ERCC2, ERCC4, ESR1, ALDH1A1, DKK1, FRMD4B, PASK, COBL, FMO2, CHST5, GHR, UTP20, SLCO3A1, GPX1, GSTP1, GSTZ1, MSH6, GTF2H1, HCLS1, SOX8, HMMR, APOB, ICAM1, ID3, IFNGR2, IGF1, IGF1R, IGHG1, IL1RN, IL6, IL18, ITGB3, JUN, LAIR2, LEPR, LRP5, LTK, ARSA, MBL2, MDM2, MKI67, MN1, MRE11A, ABCC1, MIAT, MTHFR, MTR, MUTYH, MYO5A, ATF3, NEFH, NGF, TMED5, DUSP13, PIK3CG, PLAUR, PMP22, POLG, PPARD, PPIA, MFSD6, SPDL1, DUSP23, SUSD4, UACA, FANCI, KLHDC8A, NEIL3, PPP3CA, PSMB1, CASC5, PTGIS, PTGS1, KIAA1324, BAX, RORA, RRM1, CCL5, SELE, LMF1, SIM1, PINK1, RAPH1, WNK1, SLC22A5, SOD2, SOD3, SRD5A1, SRD5A2, BRCA1, BRCA2, NEK4, AURKA, TCF4, TSPO, TLR4, TNF, TRPS1, UCHL1, UCP1, VWF, ELOVL6, SHFM1, DPF3, TCF7L1, CASP9, PLXDC2, NRP1, CCNA2, EXO1, MFHAS1, CD27, ITM2A, SCARB1, MYOT, CD44, KMT2B, CDC6 |
C0031154 | Peritonitis |
GSK3B |
C0031269 | Peutz-Jeghers Syndrome |
STK11 |
C0031306 | Phagocyte Bactericidal Dysfunction |
G6PD |
C0031347 | Pharyngeal Neoplasms |
ADH1B, ADH7 |
C0031391 | Phencyclidine Abuse |
FDFT1, APOL2, CALM2, SCARB1 |
C0031485 | Phenylketonurias |
QDPR |
C0031511 | Pheochromocytoma |
COMT, KIF1B, MAOA, MAOB, SDHB, TH |
C0031900 | Pierre Robin Syndrome |
SOX9 |
C0032002 | Pituitary Diseases |
LEPR |
C0032019 | Pituitary Neoplasms |
CDKN1B, DRD2, AGTR1, GH1, IGF1, PRL |