Metabolism, Inborn Errors Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

32 genes associated with the Metabolism, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACD adrenocortical dysplasia homolog (mouse)
ADIPOQ adiponectin, C1Q and collagen domain containing
BTD biotinidase
CDH13 cadherin 13
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2
EPO erythropoietin
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FKBP5 FK506 binding protein 5
FMO3 flavin containing monooxygenase 3
G6PD glucose-6-phosphate dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
IGF2 insulin-like growth factor 2
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
LEPR leptin receptor
MBL2 mannose-binding lectin (protein C) 2, soluble
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PKLR pyruvate kinase, liver and RBC
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC26A3 solute carrier family 26 (anion exchanger), member 3
TPMT thiopurine S-methyltransferase
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UNC119B unc-119 homolog B (C. elegans)
VKORC1 vitamin K epoxide reductase complex, subunit 1