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
|