Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
mitochondrial disease	MONDO:0044970	TARS2	Unknown	—	ClinGen	Aminoacyl-tRNA biosynthesis
		TIMM22	Unknown	30452684	Disgenet, ClinGen	Mitochondrial protein import
		TIMMDC1	Unknown	24191001 24344204 28604674 28797839 33278652 36349561	ClinGen, GWAS catalog	Complex I biogenesis
		TMEM126A	Unknown	19327736 20405026 22815638 30961538 31119195 32855858 33879611 33882309 36071901	ClinGen, GWAS catalog	—
		TMEM65	Unknown	28295037	ClinGen, Disgenet	—
		TMEM70	Unknown	18953340 19103153 21147908 21945727 24740313 28173120 35203486	ClinGen, GWAS catalog	—
		TOMM70	Unknown	31907385 32356556	Disgenet	Mitophagy - animal Pink/Parkin Mediated Mitophagy Ub-specific processing proteases
		TRMT5	Unknown	26189817 29021354 35342985 35460901	ClinGen, GWAS catalog	—
		TRMU	Unknown	19732863 21153446 21890497 23625533 27689697 28562522 28732077 30137487 30740308 33205917 33365252 36305855	ClinGen, GWAS catalog	—
		TSFM	Unknown	17033963 21741925 22277967 25037205 27677415 30297209 30911037 33340416 35071363	CTD, ClinGen	—
		TUFM	Unknown	17160893 19524667 26741492 28132884 30903008 33340416	ClinGen, GWAS catalog	—
		TYMP	Unknown	12077348 15781193 21451581 30959750 33340416 9924029	ClinGen, Disgenet	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
		UQCC2	Unknown	—	ClinGen	—
		UQCC3	Unknown	—	ClinGen	—
		UQCRB	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRC2	Unknown	23281071 23749988 24075186 28275242 28844695 33865955	ClinGen, ClinVar	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRFS1	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Efferocytosis +12 more
		UQCRH	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		UQCRQ	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		VARS2	Unknown	24827421 25058219 27502409 29314548 29980628 30679003 33937156 40091977	ClinGen, GWAS catalog	Aminoacyl-tRNA biosynthesis
		WARS2	Unknown	28236339 28650581 28905505 29120065 29980628 30388402 30566859 30920170 34890876 36756855	ClinGen, Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		YME1L1	Unknown	22262461 26785494 27495975 37123411	CTD, ClinGen	Processing of SMDT1
MITOCHONDRIAL DISEASES	C0751651 MESH:D028361	AARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		ATP5F1D	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP8	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		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
		CADM1	Unknown	30673822	CTD, Disgenet	Cell adhesion molecules Adherens junctions interactions Nectin/Necl trans heterodimerization
		CAMK2A	Unknown	30673822	CTD, Disgenet	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +45 more
		CASP8	Unknown	30673822	CTD, Disgenet	Platinum drug resistance p53 signaling pathway Apoptosis +53 more
		COQ8A	Unknown	—	Disgenet	—
		COX1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX20	Unknown	—	Disgenet, ClinGen	Thermogenesis TP53 Regulates Metabolic Genes Respiratory electron transport
		COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		DNM1L	Unknown	—	Disgenet	Necroptosis NOD-like receptor signaling pathway TNF signaling pathway +1 more
		EME2	Unknown	—	Disgenet	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
		ESR1	Unknown	30673822	CTD, Disgenet	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FOXRED1	Unknown	20818383	CTD, Disgenet, ClinGen	—
		GFM2	Unknown	—	Disgenet	Mitochondrial translation termination
		GSTP1	Unknown	30673822	CTD, Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +11 more
		HADHB	Unknown	—	Disgenet	Fatty acid elongation Fatty acid degradation Valine, leucine and isoleucine degradation +10 more
		HIBCH	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation beta-Alanine metabolism Propanoate metabolism +3 more
		MAP1LC3B	Unknown	30673822	CTD, Disgenet	Mitophagy - animal Autophagy - animal Ferroptosis +11 more
		MCCC2	Unknown	—	Disgenet	Valine, leucine and isoleucine degradation Metabolic pathways Biotin transport and metabolism +2 more
		MECR	Unknown	—	Disgenet	Fatty acid biosynthesis Fatty acid elongation Metabolic pathways +2 more
		MPV17	Unknown	18818194	CTD, Disgenet, ClinGen	Peroxisome Peroxisomal protein import
		MRPL39	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		TIMMDC1	Unknown	—	Disgenet, ClinGen	Complex I biogenesis
		TMEM126A	Unknown	—	Disgenet, ClinGen	—
		TMEM65	Unknown	—	Disgenet, ClinGen	—
		TMEM70	Unknown	—	Disgenet, ClinGen	—
		TRMT5	Unknown	—	Disgenet, ClinGen	—
		TRMU	Unknown	—	Disgenet, ClinGen	—
		TSFM	Unknown	—	Disgenet, ClinGen	—
		TUFM	Unknown	—	Disgenet, ClinGen	—
		TYMP	Unknown	—	Disgenet, ClinGen	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +4 more
		UQCRC2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		VARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		WARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		YME1L1	Unknown	—	Disgenet, ClinGen	Processing of SMDT1

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Mitochondrial disease

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