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