Mitochondrial complex I deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.omim.org/entry/252010
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Genes

13 genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FOXRED1 FAD-dependent oxidoreductase domain containing 1
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
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)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NUBPL nucleotide binding protein-like