Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL DISEASE	MONDO:0044970	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
		COX5A	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX6A1	Unknown	20307258 25152455 26302975 30030519	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX6A2	Unknown	11788423 23460811 30030519 31155743 8241294	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +10 more
		COX6B1	Unknown	18499082 22277967 24781756 34937540 9199249	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX7B	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX8A	Unknown	26685157 30030519 33705280	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COXFA4	Unknown	—	ClinGen	—
		CRLS1	Unknown	—	ClinGen	Glycerophospholipid metabolism Metabolic pathways Acyl chain remodelling of PG +1 more
		CYC1	Unknown	23910460 27074787 28844695 34252606	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		D2HGDH	Unknown	15609246 16081310 19169842 20020533 30908763 31431883 33340416 37043428	CTD, ClinGen	Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
		DARS2	Unknown	17384640 21493805 23216004 24639874 33977142	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		DGUOK	Unknown	11687800 17073823 18205204 19502998 26874653 28215579 29137425 30956829 31127938 35750291	ClinGen, GWAS catalog	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		DNA2	Unknown	—	ClinGen	DNA replication Removal of the Flap Intermediate from the C-strand HDR through Single Strand Annealing (SSA) +9 more
		EARS2	Unknown	22492562 27117034 27206875 27571996 32802952 33855712 36349561	ClinGen, Disgenet	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		ELAC2	Unknown	21146608 21593607 23849775 30126926 31045291 34338278	ClinGen, ClinVar	tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion
		FARS2	Unknown	—	ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		FASTKD2	Unknown	18771761 26370583 28499982 31944455 33340416 34234304	ClinGen, Disgenet	—
		FBXL4	Unknown	23993193 23993194 25868664 31969900 32525278 34602956 35881484	ClinGen, GWAS catalog	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		GFER	Unknown	19409522 26018198 28155230	ClinGen, GWAS catalog	—
MITOCHONDRIAL DISEASES	C0751651	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	—
		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
		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
		COX6A1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX6A2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +10 more
		COX6B1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX8A	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		CYC1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		DARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		DGUOK	Unknown	—	Disgenet, ClinGen	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		EARS2	Unknown	—	Disgenet, ClinGen	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		ELAC2	Unknown	—	Disgenet, ClinGen	tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion
		FASTKD2	Unknown	—	Disgenet, ClinGen	—
		FBXL4	Unknown	—	Disgenet, ClinGen	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		GFER	Unknown	—	Disgenet, ClinGen	—

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Mitochondrial disease

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