inherited metabolic disorder Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality. (Human Disease Ontology, DOID_655)
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Genes

44 genes associated with the disease inherited metabolic disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CETP cholesteryl ester transfer protein, plasma 2.44229
ZPR1 ZPR1 zinc finger 2.42883
SGPP1 sphingosine-1-phosphate phosphatase 1 2.39414
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2 2.16007
LPL lipoprotein lipase 2.09012
APOB apolipoprotein B 1.89442
GCKR glucokinase (hexokinase 4) regulator 1.84115
APOC1 apolipoprotein C-I 1.79724
LDLR low density lipoprotein receptor 1.75394
CERS4 ceramide synthase 4 1.64122
LIPC lipase, hepatic 1.47921
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 1.37597
ATP10D ATPase, class V, type 10D 1.29434
ACAA2 acetyl-CoA acyltransferase 2 1.03485
SPTLC3 serine palmitoyltransferase, long chain base subunit 3 1.03105
FADS1 fatty acid desaturase 1 1.00628
FADS3 fatty acid desaturase 3 0.905535
NUTF2 nuclear transport factor 2 0.897589
CILP2 cartilage intermediate layer protein 2 0.850113
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 0.850113
TIMD4 T-cell immunoglobulin and mucin domain containing 4 0.817078
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 0.790827
PCIF1 PDX1 C-terminal inhibiting factor 1 0.738873
KCTD10 potassium channel tetramerization domain containing 10 0.724323
TTC39B tetratricopeptide repeat domain 39B 0.682635
HNF4A hepatocyte nuclear factor 4, alpha 0.641775
KLHL1 kelch-like family member 1 0.552621
XKR6 XK, Kell blood group complex subunit-related family, member 6 0.5306
RAB11B RAB11B, member RAS oncogene family 0.52461
SUGP1 SURP and G patch domain containing 1 0.486425
HNF1A HNF1 homeobox A 0.486425
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 0.449873
DOCK7 dedicator of cytokinesis 7 0.345945
DSG1 desmoglein 1 0.327313
ZNF568 zinc finger protein 568 0.274608
FAM155A family with sequence similarity 155, member A 0.256228
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 0.256228
ADRB1 adrenoceptor beta 1 0.197766
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.15771
BAZ1B bromodomain adjacent to zinc finger domain, 1B 0.15771
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 0.064973
PTEN phosphatase and tensin homolog 0.052255
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2 0.052255
CEP162 centrosomal protein 162kDa 0.035343