Search Diseases

Diseases

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