Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NUCLEAR TYPE 35	MONDO:0033560	NDUFB10	Causal	28040730	ClinVar, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 2	MONDO:0030935	SDHAF1	Causal	—	ClinVar, GenCC	—
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 3	MONDO:0030937	SDHD	Causal	—	ClinVar, GenCC	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 4	MONDO:0030974	SDHB	Causal	22972948 26642834 26925370 27604842	ClinVar, Orphanet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY	C1838979 MONDO:0100133 MESH:C537475	ACAD9	Causal	—	Disgenet	Complex I biogenesis
		FOXRED1	Causal	20858599	Disgenet, HPO	—
		NDUFA13	Causal	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFAF4	Causal	18179882 22644603	Disgenet, GWAS catalog	Thermogenesis Complex I biogenesis
		NDUFAF5	Causal	18940309 22644603	Disgenet, GWAS catalog	Thermogenesis Complex I biogenesis
		NDUFB10	Causal	28040730	Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB3	Causal	22277967 22499348	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Causal	9463323 22644603	CTD, Disgenet, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFV1	Causal	22644603	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NUBPL	Causal	20818383 22644603 23553477	Disgenet, GWAS catalog	Complex I biogenesis
		SLC25A10	Causal	—	Disgenet	Proximal tubule bicarbonate reclamation Sulfide oxidation to sulfate Organic anion transporters +1 more
		TMEM126B	Causal	27374773 27374774	Disgenet, GWAS catalog	Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1	MONDO:0100224 252010	FOXRED1	Causal	20818383 20858599 22200994 25525159 25678554 6257446	CTD	—
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1	MONDO:0100224 252010	NDUFS4	Causal	10944442 11181577 16213125 19107570 22326555 24231806 29264396	ClinVar, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	618233 C4748768 MONDO:0032616	NDUFAF2	Causal	18180188	ClinVar, Disgenet, HPO	Thermogenesis Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11	618234 C4748769 MONDO:0032617	NDUFAF1	Causal	17557076 20818383 21931170 24963768	ClinVar, Disgenet, HPO	Thermogenesis Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12	301020 C4746984 MONDO:0026720	NDUFA1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13	618235 C4748770 MONDO:0032618	NDUFA2	Causal	18513682 25590979 27159321 28857146 32154054	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236 C4748777 MONDO:0032619	NDUFA11	Causal	18306244 26425740	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238 C4748785 MONDO:0032621	NDUFAF5	Causal	—	ClinVar, Disgenet, GenCC, HPO	Thermogenesis Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239 C4748786 MONDO:0032622	NDUFAF6	Causal	—	ClinVar, Disgenet, GenCC, HPO	Thermogenesis Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18	618240 C4748790 MONDO:0032623	NDUFAF3	Causal	19463981 26425749	ClinVar, Disgenet, HPO	Thermogenesis Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241 C4748791 MONDO:0032624	FOXRED1	Causal	20858599 10080174 17262856 23553477 20382551 22499348 12616398 15159508 11349233 11181577 21203893 9837812 10330338 19185523 16200211 15824269 10944442 20818383 9463323	ClinVar, Disgenet, GWAS catalog, HPO	—
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2	618222 C4748737 MONDO:0032606	NDUFS8	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21	618242 C4748792 MONDO:0032625	NUBPL	Causal	—	ClinVar, Disgenet, GenCC, HPO	Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22	618243 C4748796 MONDO:0032626	NDUFA10	Causal	21150889 22200994 26741492 28247337	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244 C4748799 MONDO:0032627	NDUFA12	Causal	33715266 21617257	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	618245 C4748803 MONDO:0032628	NDUFB9	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246 C4748806 MONDO:0032629	NDUFB3	Causal	27091925 22277967 22499348	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26	618247 C4748809 MONDO:0032630	NDUFA9	Causal	21617257 22114105 28135719 28671271 5910587	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27	618248 C4748826 MONDO:0032631	MTFMT	Causal	—	ClinVar, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Metabolic pathways
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28	618249 C4748827 MONDO:0032632	NDUFA13	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	618250 C4748830 MONDO:0032633	TMEM126B	Causal	27374774 27374773	ClinVar, Disgenet, GWAS catalog, HPO	Complex I biogenesis
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3	618224 C4748752 MONDO:0032608	NDUFS7	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30	301021 C4746985 MONDO:0026721	NDUFB11	Causal	27102574 27488349	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31	618251 C4748838 MONDO:0032634	TIMMDC1	Causal	28604674 30981218 33278652	ClinVar, Disgenet, GWAS catalog, HPO	Complex I biogenesis
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 33	618253 C4748840 MONDO:0032636	NDUFA6	Causal	20818383 30245030	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34	618776 C5394053 MONDO:0032910	NDUFAF8	Causal	31866046	ClinVar, Disgenet, GWAS catalog, HPO	Thermogenesis
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 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 I DEFICIENCY, NUCLEAR TYPE 4	618225 C4748753 MONDO:0032609	NDUFV1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226 C4748754 MONDO:0032610	NDUFS1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6	618228 C4748759 MONDO:0032611	NDUFS2	Causal	9585441 11220739 20819849 22036843 22142868	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229 C4748760 MONDO:0032612	NDUFV2	Causal	12754703 1920150 21548921 26008862 28429146	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8	618230 C4748766 MONDO:0032613	NDUFS3	Causal	14729820 19167255 22499248 24028823 30140060	ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9	618232 C4748767 MONDO:0032615	NDUFS6	Causal	107932 15372108 19259137 21364701 22200994 30948790	CTD, ClinVar, Disgenet, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +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
		SDHAF1	Causal	19465911 22995659 23322652 26642834 26749241	Disgenet, GWAS catalog	—
		SDHD	Causal	19584903 21348866 24367056 26008905 34012134 35060925	Disgenet, GWAS catalog	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 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 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	—

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Mitochondrial complex deficiency

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