abnormality of the vitamin b12 metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004341
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Genes

16 genes associated with the abnormality of the vitamin b12 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
AMN amnion associated transmembrane protein
CUBN cubilin (intrinsic factor-cobalamin receptor)
GIF gastric intrinsic factor (vitamin B synthesis)
GUCY2C guanylate cyclase 2C
HCFC1 host cell factor C1
LMBRD1 LMBR1 domain containing 1
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
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit