Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32	618252 C4748839 MONDO:0032635	NDUFB8	Causal	29429571	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35	C5436576	NARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36	619170 C5436935 MONDO:0030902	NDUFC2	Causal	32969598	CTD, ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36	619170 C5436935 MONDO:0030902	NDUFC2-KCTD14	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37	619272 C5543281 MONDO:0030997	NDUFA8	Causal	15576045 20818383 27626380 32385911 33153867	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39	620135 C5774258 MONDO:0859320	NDUFB7	Causal	33502047	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX II DEFICIENCY	C1855008 MESH:C565375 MONDO:0009641	SDHA	Unknown	22972948	CTD, Disgenet, GWAS catalog	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1	252011 C5700310 MONDO:0100294	SDHA	Causal	—	ClinVar, Disgenet, GenCC, HPO	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
MITOCHONDRIAL COMPLEX III DEFICIENCY	C1852372 MONDO:0015448 MESH:C565128	BCS1L	Unknown	17403714 19162478 25914718	Disgenet, GWAS catalog	—
		CYC1	Unknown	23910460 25914718	CTD, Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		LYRM7	Unknown	24014394 25914718	CTD, Disgenet	—
		TTC19	Unknown	21278747 25914718	CTD, Disgenet	—
		UQCC2	Unknown	24385928 25914718	CTD, Disgenet, GWAS catalog	—
		UQCC3	Unknown	25008109 25914718	CTD, Disgenet, GWAS catalog	—
		UQCRB	Unknown	12709789 25914718	CTD, ClinVar, Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRC2	Unknown	23281071 25914718	CTD, Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRFS1	Unknown	32001716	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Efferocytosis +12 more
		UQCRH	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRQ	Unknown	18439546 25914718	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 1	MONDO:0007415	BCS1L	Causal	—	ClinVar, GenCC	—
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 2	MONDO:0014063	TTC19	Causal	—	ClinVar, GenCC	—
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3	MONDO:0014064	UQCRB	Unknown	—	ClinVar, GenCC	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4	MONDO:0014065	UQCRQ	Unknown	—	ClinVar, GenCC	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 5	MONDO:0014066	UQCRC2	Causal	23281071 28275242	ClinVar, Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 6	MONDO:0014194	CYC1	Causal	23910460	ClinVar, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7	MONDO:0014356	UQCC2	Causal	24385928 28804536	CTD, ClinVar	—
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 8	MONDO:0014364	LYRM7	Causal	24014394 26912632 27151179 29353736 30831263	ClinVar, GWAS catalog	—
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 9	MONDO:0014496	UQCC3	Causal	—	ClinVar	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	124000 C3541471 OMIM:124000	BCS1L	Unknown	—	CTD, Disgenet, HPO	—
		CYC1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		LYRM7	Unknown	—	Disgenet	—
		NCOR1	Unknown	—	Disgenet	Endocrine resistance TGF-beta signaling pathway Thyroid hormone signaling pathway +16 more
		TTC19	Unknown	—	Disgenet	—
		UQCC2	Unknown	—	Disgenet	—
		UQCC3	Unknown	—	Disgenet	—
		UQCRB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRC2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRQ	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		ZSWIM7	Unknown	—	Disgenet	—
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 III DEFICIENCY, NUCLEAR TYPE 11	620137 C5774259 MONDO:0859321	UQCRH	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	C3554605 615157	NCOR1	Unknown	—	Disgenet	Endocrine resistance TGF-beta signaling pathway Thyroid hormone signaling pathway +16 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2	C3554605 615157	TTC19	Unknown	—	Disgenet, HPO	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3	615158 C3554606	UQCRB	Unknown	—	Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4	615159 C3554607	UQCRQ	Unknown	—	Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	C3554608 615160	PDZD9	Unknown	—	Disgenet	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	C3554608 615160	UQCRC2	Unknown	—	Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	615453 C3809553	CYC1	Unknown	—	Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	615824 C4014408	UQCC2	Unknown	—	Disgenet, HPO	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8	615838 C4014440	LYRM7	Unknown	—	Disgenet, HPO	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9	C4015253 616111	LBHD1	Unknown	—	Disgenet	—
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9	C4015253 616111	UQCC3	Unknown	—	Disgenet, HPO	—
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
		COA3	Unknown	—	Disgenet	Thermogenesis
		COX1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX15	Unknown	—	ClinVar, Disgenet	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX18	Unknown	—	Disgenet	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COXFA4	Unknown	—	GenCC	—
		CUTC	Unknown	—	Disgenet	—
		ENTPD7	Unknown	—	Disgenet	Phosphate bond hydrolysis by NTPDase proteins
		NCAPH2	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		NDUFA4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		SCO2	Unknown	—	ClinVar, Disgenet	Central carbon metabolism in cancer TP53 Regulates Metabolic Genes Respiratory electron transport
		STXBP2	Unknown	—	Disgenet	Platelet degranulation Other interleukin signaling
		TYMP	Unknown	—	Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
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 12	619055 C5436695 MONDO:0033646	STXBP2	Unknown	—	Disgenet	Platelet degranulation Other interleukin signaling
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13	616501 C4225304	COA6	Unknown	—	Disgenet, HPO	Thermogenesis
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14	619058 C5436710 MONDO:0033649	COA3	Unknown	25604084	ClinVar, Disgenet, GWAS catalog, HPO	Thermogenesis
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15	619059 C5436712 MONDO:0033650	COX8A	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
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 2	C5399977 604377	COA6	Unknown	—	Disgenet	Thermogenesis
		COX15	Unknown	—	Disgenet	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		NCAPH2	Unknown	—	Disgenet	Condensation of Prophase Chromosomes
		SCO2	Unknown	—	Disgenet, HPO	Central carbon metabolism in cancer TP53 Regulates Metabolic Genes Respiratory electron transport
		TYMP	Unknown	—	Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21	619065 MONDO:0033656 C5436727	COXFA4	Causal	—	ClinVar, HPO	—
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21	619065 MONDO:0033656 C5436727	NDUFA4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 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 6	615119	COX15	Unknown	—	HPO	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
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
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1	C3275684	COX1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more

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Mitochondrial complex deficiency

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