| UMLS CUI |
UMLS Term |
Proteins |
|
C0559469
|
Allergy To Eggs
|
SGCD
|
|
C0559470
|
Allergy To Peanuts
|
AHR
|
|
C0566602
|
Primary Sclerosing Cholangitis
|
MST1,
TCF4
|
|
C0574960
|
Sacroiliitis
|
POMC
|
|
C0586323
|
Alcohol Withdrawal Seizures
|
SLC29A1
|
|
C0587248
|
Costello Syndrome (Disorder)
|
KRAS,
MAP2K1,
MAP2K2,
PTPN11
|
|
C0596263
|
Carcinogenesis
|
CUX1,
ERBB2,
KRAS
|
|
C0598608
|
Hyperhomocysteinemia
|
SLC46A1,
DES,
PYCARD,
MTHFR,
PON1,
TNF,
CASP1,
CBS
|
|
C0600260
|
Lung Diseases, Obstructive
|
NR3C1
|
|
C0600427
|
Cocaine Dependence
|
NCOR2,
FAM53B
|
|
C0600433
|
Activated Protein C Resistance
|
TFPI
|
|
C0600467
|
Neurogenic Inflammation
|
CIRBP,
APP,
MCAM,
NGF,
POMC,
PTGS2,
TNF
|
|
C0600518
|
Choroidal Neovascularization
|
VEGFA
|
|
C0600519
|
Ventricular Remodeling
|
ADRA1A,
SMAD2,
SMAD3,
TGFB1
|
|
C0677050
|
Manganese Poisoning
|
SLC31A1,
CYP2D6,
ATP13A2,
HTT,
IL1B,
PARK2,
SNCA,
BNIP3,
TNF
|
|
C0677607
|
Hashimoto Disease
|
C1S
|
|
C0677776
|
Hereditary Breast And Ovarian Cancer Syndrome
|
RAD50,
MRE11A,
NBN,
PTEN,
BARD1,
RAD51,
RAD51C,
RAD51D,
BRCA1,
BRCA2,
TP53
|
|
C0677866
|
Brain Stem Neoplasms
|
CDK4,
CDK6
|
|
C0679360
|
Foodborne Disease
|
HP
|
|
C0684337
|
Ewings Sarcoma-Primitive Neuroectodermal Tumor (Pnet)
|
KIT
|
|
C0685837
|
Pure Gonadal Dysgenesis, 46, Xx
|
FSHR,
PSMC3IP,
BMP15
|
|
C0686353
|
Muscular Dystrophies, Limb-Girdle
|
DNAJB6,
LMNA
|
|
C0694566
|
Atypical Mycobacterial Infection, Disseminated
|
IFNGR1
|
|
C0700359
|
Organophosphate Poisoning
|
PON1
|
|
C0700501
|
Congenital Nystagmus
|
AHR,
ATF6
|
|
C0740340
|
Amyloidosis, Familial
|
FGA,
TTR
|
|
C0740392
|
Infarction, Middle Cerebral Artery
|
ADORA1,
EDN1,
FOS,
ALOX5,
CXCL2,
HSPD1,
ICAM1,
IL6,
IL6ST,
JUNB,
MMP9,
ATF3,
NGF,
PLAT,
PLAU,
PLD1,
CCL2,
SOD2,
STAT3,
TNFAIP6,
C3,
XDH,
SERPINH1
|
|
C0740394
|
Hyperuricemia
|
ALDH16A1
|
|
C0745103
|
Hyperlipoproteinemia Type Iia
|
ABCA1,
GHR,
APOA2,
LDLR
|
|
C0745744
|
End Stage Liver Disease
|
MAOA,
TSPO
|
|
C0749794
|
Upper Extremity Deformities, Congenital
|
EZH2
|
|
C0750927
|
Apraxia, Developmental Verbal
|
FOXP2
|
|
C0751036
|
Hereditary Motor And Sensory Neuropathy Type I
|
PMP22
|
|
C0751038
|
Cockayne Syndrome, Type Ii
|
ERCC1
|
|
C0751039
|
Cockayne Syndrome, Type I
|
ERCC4
|
|
C0751072
|
Frontotemporal Lobar Degeneration
|
SIGMAR1,
TARDBP,
GRN,
TMEM106B
|
|
C0751083
|
Duane Retraction Syndrome, Type 2
|
CHN1
|
|
C0751156
|
Fraxa Syndrome
|
FMR1
|
|
C0751157
|
Fraxe Syndrome
|
AFF2,
SERPINA1
|
|
C0751161
|
Udpglucose 4-Epimerase Deficiency Disease
|
GALE
|
|
C0751173
|
Glycogen Storage Disease Type Ii, Infantile
|
GAA
|
|
C0751202
|
Cystathionine Beta-Synthase Deficiency Disease
|
CBS
|
|
C0751208
|
Juvenile Huntington Disease
|
HTT
|
|
C0751273
|
Infantile Globoid Cell Leukodystrophy
|
GALC,
PSAP
|
|
C0751276
|
Metachromatic Leukodystrophy, Juvenile Type
|
ARSA,
PSAP
|
|
C0751278
|
Metachromatic Leukodystrophy, Infant
|
ARSA
|
|
C0751279
|
Metachromatic Leukodystrophy, Adult-Type (Disorder)
|
ARSA,
PSAP
|
|
C0751291
|
Desmoplastic Medulloblastoma
|
SUFU
|
|
C0751335
|
Scapuloperoneal Form Of Spinal Muscular Atrophy
|
TRPV4
|
|
C0751336
|
Distal Muscular Dystrophies
|
TTN,
MATR3
|
|
C0751337
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
EMD,
FHL1
|
|
C0751362
|
Narcolepsy-Cataplexy Syndrome
|
CTSH,
HLA-DQB1,
HLA-DRB1,
TNFSF4
|
|
C0751383
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
CLN3
|
|
C0751422
|
Hereditary Autoinflammatory Diseases
|
TNFAIP3
|
|
C0751617
|
Semilobar Holoprosencephaly
|
GAS1,
GLI2,
PTCH1,
TDGF1,
DISP1
|
|
C0751651
|
Mitochondrial Diseases
|
MPV17,
POLG,
SOD2,
NUBPL,
NOL3,
MGME1
|
|
C0751668
|
Machado-Joseph Disease Type I
|
ATXN3
|
|
C0751669
|
Machado-Joseph Disease Type Ii
|
ATXN3
|
|
C0751670
|
Machado-Joseph Disease Type Iii
|
ATXN3
|
|
C0751674
|
Lymphangioleiomyomatosis
|
HES1,
TSC2
|
|
C0751706
|
Primary Progressive Nonfluent Aphasia
|
GRN,
MAPT,
PSEN1,
VCP
|
|
C0751748
|
Nonketotic Hyperglycinemia
|
GCSH
|
|
C0751778
|
Myoclonic Epilepsies, Progressive
|
ATN1,
NEU1,
SERPINI1,
CLN6,
PRNP,
EPM2A
|
|
C0751781
|
Dentatorubral-Pallidoluysian Atrophy
|
ATN1
|
|
C0751783
|
Lafora Disease
|
EPM2A
|
|
C0751785
|
Unverricht-Lundborg Syndrome
|
PRICKLE1,
CSTB
|
|
C0751830
|
Gait Disorders, Neurologic
|
TTC19
|
|
C0751859
|
Lead Poisoning, Nervous System
|
ALAD
|
|
C0751865
|
Alcohol-Induced Disorders, Nervous System
|
CIRBP
|
|
C0751870
|
Heredodegenerative Disorders, Nervous System
|
CYGB,
FTL,
NGB
|
|
C0751871
|
Autoimmune Diseases Of The Nervous System
|
MCAM
|
|
C0751895
|
Vasospasm, Intracranial
|
PLAT,
S100A4,
S100A6,
S100B
|
|
C0751915
|
Pelizaeus-Merzbacher Disease, Atypical
|
PLP1
|
|
C0751916
|
Classic Pelizaeus-Merzbacher Disease
|
PLP1
|
|
C0751917
|
Pelizaeus-Merzbacher Disease, Transitional
|
PLP1
|
|
C0751955
|
Brain Infarction
|
CYBB,
FGF2,
PLAT
|
|
C0751967
|
Multiple Sclerosis, Relapsing-Remitting
|
HNRNPA1,
APOE
|
|
C0752109
|
Brain Diseases, Metabolic, Inborn
|
FOLR1,
NDUFAF2
|
|
C0752120
|
Spinocerebellar Ataxia Type 1
|
ATXN1
|
|
C0752143
|
Intracranial Thrombosis
|
SERPINC1,
PLAT,
VWF
|
|
C0752160
|
Hemangioma, Cavernous, Central Nervous System
|
CCM2,
KRIT1
|
|
C0752166
|
Bardet-Biedl Syndrome
|
SDCCAG8,
IFT27,
TTC8,
BBS12,
NPHP1,
MKS1,
BBS7,
BBS1,
BBS2,
BBS10,
MKKS,
BBIP1
|
|
C0752252
|
Neuromuscular Manifestations
|
SNAP25,
TPI1
|
|
C0752282
|
Congenital Structural Myopathy
|
BIN1,
MTM1
|
|
C0752308
|
Hypoxia-Ischemia, Brain
|
HIF1A,
IRAK1,
VEGFA
|
|
C0752347
|
Lewy Body Disease
|
EDN1,
APOE,
IGF1R,
IGF2,
IGF2R,
INS,
INSR,
MAG,
NGF,
NTRK1,
NTRK2,
SNCA,
SOD2
|
|
C0752351
|
Embryo Loss
|
SLC31A1,
GPX4,
LIF,
LCMT1
|
|
C0752353
|
Atrophy, Muscular, Spinobulbar
|
AR
|
|
C0795907
|
Conotruncal Anomaly Face Syndrome
|
COMT,
GP1BB,
TBX1,
HIRA,
UFD1L
|
|
C0796147
|
Acrocallosal Syndrome
|
FOXG1,
GLI3
|
|
C0836924
|
Thrombocytosis
|
JAK2
|
|
C0848558
|
Hypospadias
|
MAMLD1,
EXOC3,
DGKK,
GREM1,
CCDC59,
HOXA3,
HSD3B2,
KCNMA1,
ZFHX3,
ATF3,
TAX1BP1
|
|
C0852036
|
Pregnancy Associated Hypertension
|
HP,
NOS3
|
|
C0852077
|
Blood Coagulation Disorders, Inherited
|
MTHFR
|
|
C0853897
|
Diabetic Cardiomyopathies
|
AGTR2,
SLC25A4,
APOA1,
IGF1,
INS,
ATP2A2,
RYR2,
SPP1,
TNF
|
|
C0854723
|
Retinal Dystrophies
|
DRAM2,
RPGR
|
|
C0856761
|
Budd-Chiari Syndrome
|
F5,
JAK2
|
|
C0860207
|
Drug-Induced Liver Injury
|
NR1H3,
ADAM8,
HCP5,
SNX18,
CHRM3,
CLU,
COL3A1,
CTNNB1,
CYP2A6,
CYP2C9,
CYP2E1,
CYP8B1,
GADD45A,
DHFR,
AHR,
ENO1,
ALB,
FGA,
AMBP,
GC,
GCLC,
CXCL1,
GSTM1,
GSTM2,
GSTM3,
GSTP1,
GSTT1,
HLA-A,
HLA-B,
HLA-DQB1,
HLA-DRB1,
HMGB1,
HMOX1,
APOA1,
IGF1,
APOE,
APOH,
IL1A,
IL1B,
IL6,
IL11,
IL18,
KRT18,
LCN2,
LGALS3,
ARNT,
MIR132,
MDH1,
MAP3K5,
MMP2,
MTHFR,
PNP,
PDK4,
PLAT,
PLG,
POLG,
PON1,
PPARA,
PPARG,
PRKDC,
PTGS2,
BAX,
RBP1,
CCL2,
ST6GAL1,
SLPI,
SOD3,
SPP1,
TALDO1,
TF,
TNF,
C3,
TTR,
IL1R2,
DGAT2,
GGH,
SELENBP1,
AIFM1,
ADIPOQ,
NR1H4
|
|
C0872084
|
Sarcopenia
|
SUPV3L1
|
|
C0877015
|
Pelvic Organ Prolapse
|
LAMC1
|