Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10	618775 C5394051 MONDO:0032909	UQCRFS1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Efferocytosis +12 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1	C5435656 MONDO:0700250 220110	COA8	Causal	—	Disgenet	—
		COX10	Causal	—	ClinVar, Disgenet	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX20	Causal	—	Disgenet	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX4I1	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX6B1	Causal	—	ClinVar, Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX8A	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		FASTKD2	Causal	—	ClinVar, Disgenet	—
		PET100	Causal	—	Disgenet	—
		SCO1	Causal	—	ClinVar, Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		SURF1	Causal	—	ClinVar, Disgenet, GenCC, HPO	TP53 Regulates Metabolic Genes Respiratory electron transport
		TACO1	Causal	—	ClinVar, Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10	619053 C5436692 MONDO:0033639	COX14	Causal	—	ClinVar, Disgenet, GenCC, HPO	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11	619054 C5436694 MONDO:0033645	COX20	Causal	23125284 24202787 391839 411948	ClinVar, Disgenet, GWAS catalog, HPO	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12	619055 C5436695 MONDO:0033646	PET100	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16	619060 C5436714 MONDO:0033651	COX4I1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17	619061 C5436718 MONDO:0033652	COA8	Causal	25175347 27588451	ClinVar, Disgenet, GWAS catalog, HPO	—
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 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 21	619065 MONDO:0033656	COXFA4	Causal	—	ClinVar, HPO	—
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 23	620275 C5830322 MONDO:0859520	COX11	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +2 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3	619046 C5436682 MONDO:0033635	COX10	Causal	15455402 12928484 10767350	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4	619048 C5436683 MONDO:0033636	SCO1	Causal	—	ClinVar, Disgenet, GenCC, HPO	TP53 Regulates Metabolic Genes Respiratory electron transport
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7	619051 C5436685 MONDO:0033637	COX6B1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8	619052 C5436689 MONDO:0033638	TACO1	Causal	19503089 20727754 25044680 27319982	ClinVar, Disgenet, HPO	TP53 Regulates Metabolic Genes Respiratory electron transport

«‹12›»

Mitochondrial complex deficiency

Bookmark This Disease