| 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 |