mitochondrial metabolism disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (Human Disease Ontology, DOID_700)
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Genes

39 genes involed in the disease mitochondrial metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
C10ORF2 chromosome 10 open reading frame 2
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
DNA2 DNA replication helicase/nuclease 2
FASTKD2 FAST kinase domains 2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
LRPPRC leucine-rich pentatricopeptide repeat containing
MGME1 mitochondrial genome maintenance exonuclease 1
MTFMT mitochondrial methionyl-tRNA formyltransferase
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHB pyruvate dehydrogenase (lipoamide) beta
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCO1 SCO1 cytochrome c oxidase assembly protein
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TYMP thymidine phosphorylase