3-Methylglutaconic 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/C0574083
Similar Terms
Downloads & Tools

Genes

52 genes associated with the disease 3-Methylglutaconic Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADSB acyl-CoA dehydrogenase, short/branched chain
AGK acylglycerol kinase
ATAD3A ATPase family, AAA domain containing 3A
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP5F1D ATP synthase F1 subunit delta
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRN attractin
AUH AU RNA binding protein/enoyl-CoA hydratase
C19ORF70 chromosome 19 open reading frame 70
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CAT catalase
CLDN1 claudin 1
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CSF3 colony stimulating factor 3 (granulocyte)
CUBN cubilin (intrinsic factor-cobalamin receptor)
DES desmin
DHCR7 7-dehydrocholesterol reductase
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DTNA dystrobrevin, alpha
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
FKBP1A FK506 binding protein 1A, 12kDa
FXN frataxin
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HTRA2 HtrA serine peptidase 2
KIF1B kinesin family member 1B
LDB3 LIM domain binding 3
MEST mesoderm specific transcript
MFN2 mitofusin 2
MGA MGA, MAX dimerization protein
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PGC progastricsin (pepsinogen C)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
PPARA peroxisome proliferator-activated receptor alpha
RYR1 ryanodine receptor 1 (skeletal)
SERAC1 serine active site containing 1
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TAZ tafazzin
TBX1 T-box 1
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM70 transmembrane protein 70
ZBTB18 zinc finger and BTB domain containing 18