Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18	619062 C5436720 MONDO:0033653	COX6A2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +10 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19	619063 C5436723 MONDO:0033654	PET117	Causal	28386624	ClinVar, Disgenet, GWAS catalog, HPO	—
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19	619063 C5436723 MONDO:0033654	KAT14	Unknown	—	Disgenet	—
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2	C5399977	COA5	Unknown	—	Disgenet	Thermogenesis
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20	619064 C5436726 MONDO:0033655	COX5A	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22	619355 C5543491 MONDO:0859160	COX16	Causal	33169484	ClinVar, Disgenet, HPO	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22	619355 C5543491 MONDO:0859160	SYNJ2BP-COX16	Unknown	—	Disgenet	—
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23	620275 C5830322 MONDO:0859520	COX11	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +2 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5	220111	LRPPRC	Unknown	—	HPO	TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9	616500 C4225154	COA5	Unknown	—	Disgenet, HPO	Thermogenesis
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	C3275684	ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP8	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ND4L	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +9 more
		ND5	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 1	604273 C3276276 MONDO:0011421 OMIM:604273	ATPAF2	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	—
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 2	614052 MONDO:0013546 OMIM:614052	TMEM70	Unknown	18953340 21147908	CTD, ClinVar, GWAS catalog, HPO	—
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 3	614053 C3279708 MONDO:0013547 OMIM:614053	ATP5F1E	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4A	620358 C5830480 MONDO:0957254	ATP5F1A	Unknown	34483339 34954817	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4B	615228 C3808899 MONDO:0014091 OMIM:615228	ATP5F1A	Unknown	23599390 23596069	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5	618120 C4748269 MONDO:0020858	ATP5F1D	Unknown	29478781	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5	618120 C4748269 MONDO:0020858	ND5	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 7	620359 C5830482 MONDO:0957255	ATP5PO	Unknown	—	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more

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Mitochondrial complex deficiency

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