methylmalonic acidemia Gene Set
Genes
10 genes associated with the methylmalonic acidemia 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
|
|
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
|
|
MUT
|
methylmalonyl CoA mutase
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
