dicarboxylic aciduria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An increased concentration of dicarboxylic acid in the urine. (Human Phenotype Ontology, HP_0003215)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003215
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Genes

31 genes associated with the dicarboxylic aciduria 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
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACSF3 acyl-CoA synthetase family member 3
CD320 CD320 molecule
CPT2 carnitine palmitoyltransferase 2
D2HGDH D-2-hydroxyglutarate dehydrogenase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
ETHE1 ethylmalonic encephalopathy 1
GCDH glutaryl-CoA dehydrogenase
HADH hydroxyacyl-CoA dehydrogenase
HCFC1 host cell factor C1
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
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
POLG polymerase (DNA directed), gamma
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
TCN2 transcobalamin II