Combined Oxidative Phosphorylation Deficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1836797
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Genes

40 genes associated with the disease Combined Oxidative Phosphorylation Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATP5F1A ATP synthase F1 subunit alpha
C12ORF65 chromosome 12 open reading frame 65
C1QBP complement component 1, q subcomponent binding protein
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ELAC2 elaC ribonuclease Z 2
EME2 essential meiotic structure-specific endonuclease subunit 2
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
GFM1 G elongation factor, mitochondrial 1
GTPBP3 GTP binding protein 3 (mitochondrial)
LXN latexin
LYRM4 LYR motif containing 4
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MIPEP mitochondrial intermediate peptidase
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MRPS2 mitochondrial ribosomal protein S2
MRPS22 mitochondrial ribosomal protein S22
MRPS34 mitochondrial ribosomal protein S34
MRPS7 mitochondrial ribosomal protein S7
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative)
PNPT1 polyribonucleotide nucleotidyltransferase 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SFXN4 sideroflexin 4
SLC25A26 solute carrier family 25 (S-adenosylmethionine carrier), member 26
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TMEM151B transmembrane protein 151B
TRIT1 tRNA isopentenyltransferase 1
TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae)
TRMT5 tRNA methyltransferase 5
TSFM Ts translation elongation factor, mitochondrial
TUFM Tu translation elongation factor, mitochondrial
TXN2 thioredoxin 2
VARS2 valyl-tRNA synthetase 2, mitochondrial