Leigh syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LEIGH SYNDROME	MONDO:0009723 506	BCS1L	Causal	10508156 11528392 19162478 21274865 25613900 28427446 19508421 12215968 17403714	ClinGen, GWAS catalog, ClinVar	—
		COX15	Causal	11788607 12474143 15235026 21723506 25613900 26039449	ClinGen, GWAS catalog	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		ECHS1	Causal	25125611 25393721 25613900 26000322 26099313 26251176 27977873 28409271 28755360 29575569	ClinGen, GWAS catalog	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation +14 more
		FARS2	Causal	22499341 22833457 26553276 27095821 27549011 27977873 29126765	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		FBXL4	Causal	23993193 23993194 25613900 25868664 27977873 31969900	ClinGen, GWAS catalog	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FOXRED1	Causal	—	ClinGen, GenCC	—
		IARS2	Causal	25130867 25613900 29980628 30041933 39169373	CTD, ClinGen, Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		MRPS34	Causal	25613900 25816300 28777931	CTD, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MTFMT	Causal	21907147 23499752 24461907 29980628 30087118 30911575	ClinGen, HPO, ClinVar	Aminoacyl-tRNA biosynthesis Metabolic pathways
		NDUFAF2	Causal	16200211 18180188 19384974 20571988 20818383 23702311 25613900	ClinGen, GWAS catalog, ClinVar	Thermogenesis Complex I biogenesis
		NDUFAF5	Causal	18940309 19542079 21607760 23536703 25613900 29581464 30473481	ClinGen, GWAS catalog	Thermogenesis Complex I biogenesis
		NDUFAF6	Causal	18614015 22019594 25613900 26741492 27623250 28639102 29531337 30642748 31967322 32020600	ClinGen, Orphanet	Thermogenesis Complex I biogenesis
		NDUFS1	Causal	—	ClinVar, ClinGen, GenCC	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Causal	—	ClinVar, ClinGen, GenCC	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS7	Causal	10360771 15269216 17604671 22644603 27509854 30429455 30972103	ClinVar, ClinGen, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS8	Causal	15159508 19672299 20818383 21924235 22200994 23430795 27509854 29285794 9837812	ClinVar, ClinGen, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFV1	Causal	11349233 19672299 21696386 23266820 23334465 27344648 27509854 29976978 30090137 30972103	ClinGen, GWAS catalog, ClinVar	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		SDHA	Causal	—	ClinGen, GenCC, ClinVar	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SURF1	Causal	10443880 10556302 22488715 25164807 27756633 29601977 29933018 9837813 9843204	ClinVar, ClinGen, Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		TPK1	Causal	18853439 22152682 25458521 27896076 30483896 30789823 31095747 31127358 31288420	CTD, ClinGen	Thiamine metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		VPS13D	Causal	20301423 29307555 29518281 29604224	CTD, ClinGen	—
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY	C1850599	SURF1	Causal	—	Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport