Mitochondrial Encephalomyopathies Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0162666
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Genes

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

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase
ACAD9 acyl-CoA dehydrogenase family, member 9
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
C12ORF65 chromosome 12 open reading frame 65
COQ4 coenzyme Q4
COX2
DNM1L dynamin 1-like
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GFER growth factor, augmenter of liver regeneration
GUCA1A guanylate cyclase activator 1A (retina)
MFF mitochondrial fission factor
MMP1 matrix metallopeptidase 1
MSTN myostatin
MT-ATP6 ATP synthase F0 subunit 6
MT-CYB cytochrome b
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MTFMT mitochondrial methionyl-tRNA formyltransferase
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NTF4 neurotrophin 4
OPA1 optic atrophy 1 (autosomal dominant)
PRPF8 pre-mRNA processing factor 8
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RERE arginine-glutamic acid dipeptide (RE) repeats
RNASEH1 ribonuclease H1
RPE65 retinal pigment epithelium-specific protein 65kDa
SCO2 SCO2 cytochrome c oxidase assembly protein
SLC25A42 solute carrier family 25, member 42
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TFAM transcription factor A, mitochondrial
TK2 thymidine kinase 2, mitochondrial
TMEM65 transmembrane protein 65
TMEM70 transmembrane protein 70
TTC19 tetratricopeptide repeat domain 19
VARS2 valyl-tRNA synthetase 2, mitochondrial
VDAC1 voltage-dependent anion channel 1