abnormality of vitamin metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly in the metabolism of a vitamin. (Human Phenotype Ontology, HP_0100508)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100508
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37 genes associated with the abnormality of vitamin metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ALDH4A1 aldehyde dehydrogenase 4 family, member A1
AMN amnion associated transmembrane protein
AMT aminomethyltransferase
BAAT bile acid CoA:amino acid N-acyltransferase
CUBN cubilin (intrinsic factor-cobalamin receptor)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
GCSH glycine cleavage system protein H (aminomethyl carrier)
GIF gastric intrinsic factor (vitamin B synthesis)
GLDC glycine dehydrogenase (decarboxylating)
GLYCTK glycerate kinase
GUCY2C guanylate cyclase 2C
HCFC1 host cell factor C1
IVD isovaleryl-CoA dehydrogenase
LMBRD1 LMBR1 domain containing 1
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MCEE methylmalonyl CoA epimerase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
OCRL oculocerebrorenal syndrome of Lowe
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PRODH proline dehydrogenase (oxidase) 1
PSAT1 phosphoserine aminotransferase 1
SLC36A2 solute carrier family 36 (proton/amino acid symporter), member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A20 solute carrier family 6 (proline IMINO transporter), member 20
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TJP2 tight junction protein 2
TTPA tocopherol (alpha) transfer protein
TTR transthyretin