Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL DISEASE	MONDO:0044970	AARS2	Causal	21549344 24808023 29228266 29980628 30285085 31705293	ClinGen, GenCC	Aminoacyl-tRNA biosynthesis
		C1QBP	Causal	22904065 28498888 28942965 29123152 32652806 33344382 33977026 34003581 34419324 35119291 35310974 9305894	ClinGen, GWAS catalog	Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
		COX20	Causal	22095077 23125284 24202787 24403053 30656193 31079202 32606554 32999401 33751098	ClinGen, Orphanet	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		FOXRED1	Causal	20818383 20858599 22200994 25678554 28797839 30392038 30723688 33613441	ClinGen, Disgenet	—
		MPV17	Causal	16582910 16909392 1696177 22508010 22964873 24247928 26437932 26760297 29282788 29318572 30298599 30833296 33340416	ClinGen, GWAS catalog	Peroxisome Peroxisomal protein import
		MRPL39	Causal	33340416 37133451	ClinGen, Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		NARS2	Causal	25807530 26402642 29980628 31967322 32488467	CTD	Aminoacyl-tRNA biosynthesis
		NDUFC2	Causal	27509854 32969598	CTD, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
		NDUFS1	Causal	11349233 20382551 21458341 22200994 24952175 25615419 33340416	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Causal	10944442 11181577 12616398 14749350 14765537 18396137 22326555 22653057 24020637 27079373 27671926 29590638 33340416 35379322 9463323	ClinGen, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		RARS2	Causal	17847012 20635367 21273289 22569581 24639874 25809939 31536827 32071833 33209735	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		RMND1	Causal	23022099 25058219 25604853 26395190 27412952	ClinGen, GWAS catalog	—
		SLC25A4	Causal	30013777 27693233 16155110 22187496 25732997 23401503	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
		SURF1	Causal	10443880 22488715 23829769 25164807 27756633 29601977 36795052 9837813	ClinGen, Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		TK2	Causal	11687801 15639197 16908738 18467430 20123860 29602790 33340416	ClinGen, GWAS catalog	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		TMEM126B	Causal	22982022 27290639 27374773 27374774 27977873 29093663	ClinGen, GWAS catalog	Complex I biogenesis
		TRIT1	Causal	24901367 26857223 28185376 30977854 31140736 32088416 32376682 32948376 35418828 35568357	ClinGen, GWAS catalog	Metabolic pathways tRNA modification in the mitochondrion
		TRMT10C	Causal	27132592 33886802	CTD, ClinGen	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		TTC19	Causal	21278747 24397319 25652355 28673544 37927170	ClinGen, GWAS catalog	—
		ABCB7	Unknown	10196363 11050011 11843825 16467350 19046159 21464130 22398176 26242992 33340416 34354969	ClinGen, GWAS catalog	ABC transporters Mitochondrial ABC transporters
		ACO2	Unknown	22405087 23438437 25351951 26992325 29564393 29577077 30689204 31106992	CTD, ClinGen	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		AGK	Unknown	22284826 25208612 28712726 28868593 33340416	ClinGen, GWAS catalog	Glycerolipid metabolism Metabolic pathways Glycerophospholipid biosynthesis +1 more
		APOO	Unknown	—	GenCC	—
		ATP5F1A	Unknown	23596069 23599390 30950220 34483339 34954817	GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP5F1E	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP5MC3	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP5MK	Unknown	21345788 21874297 29234032 29917077	ClinGen, GWAS catalog	—
		ATP5PO	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATPAF2	Unknown	14757859 2142305 30369941 34375736 35330152	ClinGen, Disgenet	—
		BCS1L	Unknown	—	ClinGen	—
		BOLA3	Unknown	21944046 22562699 24334290 33340416	ClinGen, GWAS catalog	—
		CARS2	Unknown	25361775 25787132 29079736 29980628 30139652	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis
		CHCHD10	Unknown	24934289 25113787 25193783 25428574 25833818 29121267 30877432 31261376 35700042	ClinGen, GWAS catalog	Amyotrophic lateral sclerosis
		COA3	Unknown	22610097 23260140 23362268 25604084	ClinGen, GWAS catalog	Thermogenesis
		COA5	Unknown	—	ClinGen	Thermogenesis
		COA6	Unknown	—	ClinGen	Thermogenesis
		COA7	Unknown	24333015 27683825 29718187 34322155 35210360 35603692 37750949	ClinGen, GWAS catalog	Thermogenesis
		COA8	Unknown	25175347 29577824 30552096 31555154 32637636 33340416	ClinGen, GWAS catalog	—
		COQ2	Unknown	16400613 17332895 17855635 20495179 21703546 23631824 25564041 26922674 29637272	ClinGen, GWAS catalog	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ4	Unknown	18474229 25658047 28472853 28540186 29539633 30225196 30659264 33340416	ClinGen, Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ5	Unknown	21937992 25152161 29044765 33340416 36266294 37599337	ClinGen, Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ8B	Unknown	24270420 32381600	ClinGen, GWAS catalog	—
		COQ9	Unknown	19375058 20495179 23255162 26081641 29560582 31821167	ClinGen, ClinVar	—
		COX10	Unknown	10767350 12928484 15455402 16103131 24100867 26741492 27290639 30588737 32313153 33340416	ClinGen, GWAS catalog	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX11	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +2 more
		COX14	Unknown	22243966	ClinGen, ClinVar	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX15	Unknown	12474143 15235026 15863660 21412973 21723506 26039449 26959537 31967322 32232962 33340416 33746038 34440436	ClinGen, GWAS catalog	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX16	Unknown	—	ClinGen	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX4I1	Unknown	28766551 30030519 31290619 32075102 33578848 33672589	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX4I2	Unknown	19268275 22730437 30030519 32075102	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +10 more
MITOCHONDRIAL DISEASES	C0751651 MESH:D028361	AARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		ABCB7	Unknown	—	Disgenet, ClinGen	ABC transporters Mitochondrial ABC transporters
		ACO2	Unknown	—	Disgenet, ClinGen	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		AGK	Unknown	—	Disgenet, ClinGen	Glycerolipid metabolism Metabolic pathways Glycerophospholipid biosynthesis +1 more
		APOO	Unknown	—	Disgenet	—
		ATP5F1A	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP5MK	Unknown	—	Disgenet, ClinGen	—
		ATPAF2	Unknown	—	Disgenet, ClinGen	—
		BOLA3	Unknown	—	Disgenet, ClinGen	—
		C1QBP	Unknown	—	Disgenet, ClinGen	Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
		CARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		CHCHD10	Unknown	—	Disgenet, ClinGen	Amyotrophic lateral sclerosis
		COA3	Unknown	—	Disgenet, ClinGen	Thermogenesis
		COA7	Unknown	—	Disgenet, ClinGen	Thermogenesis
		COA8	Unknown	—	Disgenet, ClinGen	—
		COQ2	Unknown	—	Disgenet, ClinGen	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ4	Unknown	—	Disgenet, ClinGen	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ5	Unknown	29044765 37599337 36266294 41199775	Disgenet, ClinGen	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COQ8B	Unknown	—	Disgenet, ClinGen	—
		COQ9	Unknown	—	Disgenet, ClinGen	—
		COX10	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX14	Unknown	—	Disgenet, ClinGen	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX15	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Porphyrin metabolism Metabolic pathways +3 more
		COX20	Unknown	—	Disgenet, ClinGen	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX4I1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX4I2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +10 more
		FOXRED1	Unknown	20818383	CTD, Disgenet, ClinGen	—
		MPV17	Unknown	18818194	CTD, Disgenet, ClinGen	Peroxisome Peroxisomal protein import
		MRPL39	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		NARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		NDUFC2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
		NDUFS1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		RARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		RMND1	Unknown	—	Disgenet, ClinGen	—
		SLC25A4	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
		SURF1	Unknown	—	Disgenet, ClinGen	TP53 Regulates Metabolic Genes Respiratory electron transport
		TK2	Unknown	—	Disgenet, ClinGen	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		TMEM126B	Unknown	—	Disgenet, ClinGen	Complex I biogenesis
		TRIT1	Unknown	—	Disgenet, ClinGen	Metabolic pathways tRNA modification in the mitochondrion
		TRMT10C	Unknown	—	Disgenet, ClinGen	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		TTC19	Unknown	—	Disgenet, ClinGen	—
MITOCHONDRIAL DYSFUNCTION	C4021734	SLC25A4	Unknown	16155110 22187496 23401503 25732997 27693233 30013777	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more

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Mitochondrial disease

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