Mitochondrial Respiratory Chain Deficiencies Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0949857
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Genes

48 genes associated with the disease Mitochondrial Respiratory Chain Deficiencies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ATP5F1A ATP synthase F1 subunit alpha
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DGUOK deoxyguanosine kinase
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
ELAC2 elaC ribonuclease Z 2
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBXL4 F-box and leucine-rich repeat protein 4
FGF21 fibroblast growth factor 21
FLAD1 flavin adenine dinucleotide synthetase 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FXN frataxin
GDF15 growth differentiation factor 15
GFER growth factor, augmenter of liver regeneration
GH1 growth hormone 1
HSPA14 heat shock 70kDa protein 14
HSPD1 heat shock 60kDa protein 1 (chaperonin)
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MFN2 mitofusin 2
MGME1 mitochondrial genome maintenance exonuclease 1
MMUT methylmalonyl-CoA mutase
MPV17 MpV17 mitochondrial inner membrane protein
MRPL3 mitochondrial ribosomal protein L3
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTO1 mitochondrial tRNA translation optimization 1
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS2 nitric oxide synthase 2, inducible
NUBPL nucleotide binding protein-like
PLCE1 phospholipase C, epsilon 1
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
SARDH sarcosine dehydrogenase
SCO1 SCO1 cytochrome c oxidase assembly protein
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDS serine dehydratase
SOD2 superoxide dismutase 2, mitochondrial
SORD sorbitol dehydrogenase
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TRMT10C tRNA methyltransferase 10 homolog C (S. cerevisiae)
TRMT5 tRNA methyltransferase 5
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TTC19 tetratricopeptide repeat domain 19