Methylmalonic Aciduria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1848552
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Genes

35 genes associated with the disease Methylmalonic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ABHD12 abhydrolase domain containing 12
ACSF3 acyl-CoA synthetase family member 3
ALDH6A1 aldehyde dehydrogenase 6 family, member A1
CAVIN1 caveolae associated protein 1
CD320 CD320 molecule
CENPT centromere protein T
CRABP2 cellular retinoic acid binding protein 2
CYCS cytochrome c, somatic
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
HCFC1 host cell factor C1
KCTD10 potassium channel tetramerization domain containing 10
LMBRD1 LMBR1 domain containing 1
MAN2B1 mannosidase, alpha, class 2B, member 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
MMD monocyte to macrophage differentiation-associated
MMUT methylmalonyl-CoA mutase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MVK mevalonate kinase
PRDX1 peroxiredoxin 1
SEPT11 septin 11
SEPT2 septin 2
SOD2 superoxide dismutase 2, mitochondrial
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit
TBX1 T-box 1
TCN2 transcobalamin II
THAP11 THAP domain containing 11