Vitamin B 12 Deficiency Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A vitamin metabolic disorder that results from low blood levels of vitamin B12. (Human Disease Ontology, DOID_0050731)
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14 genes associated with the Vitamin B 12 Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
APOE apolipoprotein E
BHMT betaine--homocysteine S-methyltransferase
CBS cystathionine-beta-synthase
COMT catechol-O-methyltransferase
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
RFC1 replication factor C (activator 1) 1, 145kDa
SHMT1 serine hydroxymethyltransferase 1 (soluble)
TC2N tandem C2 domains, nuclear
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family)
TCN2 transcobalamin II
TYMS thymidylate synthetase