hyperhomocysteinemia Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (Human Disease Ontology, DOID_9279)
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Genes

19 genes associated with the disease hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
AHCY adenosylhomocysteinase
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
CBS cystathionine-beta-synthase
COMT catechol-O-methyltransferase
ENOSF1 enolase superfamily member 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NNMT nicotinamide N-methyltransferase
PON1 paraoxonase 1
PON2 paraoxonase 2
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC19A1 solute carrier family 19 (folate transporter), member 1
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TCN2 transcobalamin II
TYMS thymidylate synthetase
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