abnormality of the vitamin b12 metabolism Gene Set
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
|
