Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL DISEASE	MONDO:0044970	NDUFAF2	Unknown	16200211 19384974 20818383 23702311 25613900 26795593 28797839 37938061	ClinGen, GWAS catalog	Thermogenesis Complex I biogenesis
		NDUFAF3	Unknown	19463981 22387847 27509854 27986404 29344937 34386730	ClinGen	Thermogenesis Complex I biogenesis
		NDUFAF4	Unknown	18179882 28853723 30369941 32949790 33340416	ClinGen, Disgenet	Thermogenesis Complex I biogenesis
		NDUFAF5	Unknown	18940309 19542079 21607760 23536703 25613900 28797839 29581464 30473481 34797029 36580434	ClinGen, GWAS catalog	Thermogenesis Complex I biogenesis
		NDUFAF6	Unknown	18614015 23509070 26741492 27466185 27623250 28639102 29531337 30642748 31967322 33340416 37364055 38720117	ClinGen, Orphanet	Thermogenesis Complex I biogenesis
		NDUFB10	Unknown	19672299 27509854 27626371 28040730 32025618 33169436	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB11	Unknown	25772934 25921236 26741492 27102574 27488349 27509854 28050600 30423443	ClinGen, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB3	Unknown	22277967 22499348 27091925 27509854 27626371 31000363	CTD, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB7	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB8	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
		NDUFB9	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS2	Unknown	11220739 11278828 18178500 20819849 22036843 27509854 28031252 31297047 31411514 33744462 34732887	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS3	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS6	Unknown	15372108 19259137 19672299 22200994 22474353 25902503 27290639 27509854 30948790	ClinGen, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS7	Unknown	10360771 12049648 15956670 17275378 17604671 22644603 27509854 27626380 30369941 30429455 30972103 38316835	ClinGen, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS8	Unknown	15159508 19336460 19672299 20818383 20819849 22499348 23430795 29285794 33340416 36101822 9837812	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFV1	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFV2	Unknown	12754703 19167255 19672299 26008862 28429146 30369941 30831263 33340416 33811136 34276053 34405929	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NFU1	Unknown	21944046 22077971 25758857 25918518 33007329 36256512	ClinGen, GWAS catalog	—
		NNT	Unknown	22634753 23747984 25613900 26070314 26523528 26548497 27129361 29046340 35627102 36478070 37352919 38261461 38795789	ClinGen, GenCC	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
		NUBPL	Unknown	20818383 22826544 23553477 29982452 30897263 31787496 31917109 32518176 36280881	ClinGen, Disgenet	Complex I biogenesis
		OGDH	Unknown	—	ClinGen	Citrate cycle (TCA cycle) Lipoic acid metabolism Metabolic pathways +5 more
		OXCT1	Unknown	—	ClinGen	Valine, leucine and isoleucine degradation Butanoate metabolism Metabolic pathways +1 more
		PARS2	Unknown	25629079 27290639 28077841 29915213 29980628 30237576 32071833 32514400 34585293	CTD, ClinGen	Aminoacyl-tRNA biosynthesis
		PDE12	Unknown	—	GenCC	OAS antiviral response
		PDHA1	Unknown	—	ClinGen	Glycolysis / Gluconeogenesis Citrate cycle (TCA cycle) Pyruvate metabolism +12 more
		PDHX	Unknown	12557299 14518830 15303005 16566017 25087164 27343776	ClinGen, GWAS catalog	Metabolic pathways Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation +2 more
		PDSS1	Unknown	17332895 20889762 22494076 33285023 34765390	ClinGen, GWAS catalog	Terpenoid backbone biosynthesis Ubiquinol biosynthesis
		PET100	Unknown	—	ClinGen	—
		PET117	Unknown	—	ClinGen	—
		PMPCA	Unknown	25808372 26657514 27148589 30617178 33272776 33340416 35803560 37332652	ClinGen, HPO	Processing of SMDT1
		PNPLA8	Unknown	—	ClinGen	Acyl chain remodelling of PC Acyl chain remodelling of PE
		PRORP	Unknown	27498866 31455609 34715011 37558808	ClinGen, GWAS catalog	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		PUS1	Unknown	15108122 17056637 19731322 25058219 26556812 27197761 33340416	ClinGen, Disgenet	tRNA modification in the mitochondrion
		SARS2	Unknown	21255763 24034276 27279129 28716262 29980628 30831263 31607746 33751860 33972171 34407605 35445976	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		SCO1	Unknown	11013136 19295170 23878101 25683716 28973536 31352446	ClinGen, GWAS catalog	TP53 Regulates Metabolic Genes Respiratory electron transport
		SCO2	Unknown	—	ClinGen	Central carbon metabolism in cancer TP53 Regulates Metabolic Genes Respiratory electron transport
		SDHA	Unknown	—	ClinGen	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SDHAF1	Unknown	19465911 22995659 26642834 31130284 33162331	ClinGen, GWAS catalog	—
		SDHB	Unknown	17056719 22972948 26642834 26925370 27604842 32124427 32859697 33156815 33162331	ClinGen, Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SDHD	Unknown	24367056 26008905 33162331 34118887	ClinGen, GWAS catalog	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SFXN4	Unknown	24119684 31059822 31873120 33340416 35333655	CTD, ClinGen	—
		SLC25A1	Unknown	23393310 23561848 26870663 29238895 30108060 33340416	ClinGen, GWAS catalog	Gluconeogenesis Fatty acyl-CoA biosynthesis
		SLC25A10	Unknown	16027120 29211846	ClinGen, Orphanet	Proximal tubule bicarbonate reclamation Sulfide oxidation to sulfate Organic anion transporters +1 more
		SLC25A12	Unknown	15987682 19641205 24515575 31403263 31594244 32700846 35008954 9722566	ClinGen, GenCC	Gluconeogenesis Aspartate and asparagine metabolism
		SLC25A26	Unknown	26522469 33608280 34375635 35024855 35730628	CTD, ClinGen	Transport of inorganic cations/anions and amino acids/oligopeptides
		SLC25A3	Unknown	17273968 21763135 24658400 25681081 27780865 33340416	CTD, ClinGen	—
		SUCLA2	Unknown	—	ClinGen	Citrate cycle (TCA cycle) Propanoate metabolism Metabolic pathways +2 more
		TACO1	Unknown	19503089 25044680 27319982 32444556 33709035	ClinGen, GWAS catalog	TP53 Regulates Metabolic Genes Respiratory electron transport
		TAMM41	Unknown	—	ClinGen	—
MITOCHONDRIAL DISEASES	C0751651 MESH:D028361	NDUFAF2	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis
		NDUFAF3	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis
		NDUFAF4	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis
		NDUFAF5	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis
		NDUFAF6	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis
		NDUFB10	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB11	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFB3	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS6	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS7	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS8	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFV2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NFU1	Unknown	—	Disgenet, ClinGen	—
		NNT	Unknown	—	Disgenet, ClinGen	Nicotinate and nicotinamide metabolism Metabolic pathways Citric acid cycle (TCA cycle)
		NUBPL	Unknown	20818383	CTD, Disgenet, ClinGen	Complex I biogenesis
		PARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		PDE12	Unknown	—	Disgenet	OAS antiviral response
		PDHX	Unknown	—	Disgenet, ClinGen	Metabolic pathways Regulation of pyruvate dehydrogenase (PDH) complex Glyoxylate metabolism and glycine degradation +2 more
		PMPCA	Unknown	—	Disgenet, ClinGen	Processing of SMDT1
		PRORP	Unknown	—	Disgenet, ClinGen	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		PUS1	Unknown	—	Disgenet, ClinGen	tRNA modification in the mitochondrion
		SARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		SCO1	Unknown	17182746	CTD, Disgenet, ClinGen	TP53 Regulates Metabolic Genes Respiratory electron transport
		SDHAF1	Unknown	—	Disgenet, ClinGen	—
		SDHB	Unknown	—	Disgenet, ClinGen	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SDHD	Unknown	—	Disgenet, ClinGen	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SFXN4	Unknown	—	Disgenet, ClinGen	—
		SLC25A1	Unknown	—	Disgenet, ClinGen	Gluconeogenesis Fatty acyl-CoA biosynthesis
		SLC25A10	Unknown	—	Disgenet, ClinGen	Proximal tubule bicarbonate reclamation Sulfide oxidation to sulfate Organic anion transporters +1 more
		SLC25A12	Unknown	—	Disgenet, ClinGen	Gluconeogenesis Aspartate and asparagine metabolism
		SLC25A26	Unknown	—	Disgenet, ClinGen	Transport of inorganic cations/anions and amino acids/oligopeptides
		SLC25A3	Unknown	—	Disgenet, ClinGen	—
		TACO1	Unknown	—	Disgenet, ClinGen	TP53 Regulates Metabolic Genes Respiratory electron transport

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Mitochondrial disease

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