Mitochondrial Encephalopathy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1852373
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Genes

29 genes associated with the disease Mitochondrial Encephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATP5F1A ATP synthase F1 subunit alpha
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
C19ORF70 chromosome 19 open reading frame 70
CLCNKB chloride channel, voltage-sensitive Kb
COQ8A coenzyme Q8A
COX3
CRAT carnitine O-acetyltransferase
DNM1L dynamin 1-like
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
GFM1 G elongation factor, mitochondrial 1
LYRM7 LYR motif containing 7
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEFL neurofilament, light polypeptide
NUBPL nucleotide binding protein-like
PINK1 PTEN induced putative kinase 1
PLPBP pyridoxal phosphate binding protein
POLG polymerase (DNA directed), gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SURF1 surfeit 1
TIMM50 translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)
TWNK twinkle mtDNA helicase
VARS2 valyl-tRNA synthetase 2, mitochondrial
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial