Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
MITOCHONDRIAL DISEASES	C0751651 MESH:D028361	MRPS34	Unknown	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		NARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis
		ND1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND4	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND4L	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +9 more
		ND5	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		ND6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +11 more
		NDUFA6	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFAF8	Unknown	—	Disgenet, ClinGen	Thermogenesis
		NDUFC2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +13 more
		NDUFC2-KCTD14	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		NDUFS1	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFS4	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NOL3	Unknown	19139834	CTD, Disgenet	Apoptosis
		NOS2	Unknown	16157314	CTD, Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +21 more
		OPA1	Unknown	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		OXA1L	Unknown	—	Disgenet, ClinGen	Protein export Mitochondrial translation elongation Mitochondrial translation termination
		PIGY	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		POLG	Unknown	18716558	CTD, Disgenet	Base excision repair
		POLGARF	Unknown	—	Disgenet	—
		POLR3H	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		PYURF	Unknown	—	Disgenet	—
		RARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		RMND1	Unknown	—	Disgenet, ClinGen	—
		RRM2B	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Glutathione metabolism +6 more
		SDHC	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Oxidative phosphorylation Metabolic pathways +12 more
		SLC25A4	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Necroptosis +15 more
		SOD2	Unknown	9917329	CTD, Disgenet	FoxO signaling pathway Peroxisome Longevity regulating pathway +9 more
		SPG7	Unknown	—	Disgenet, ClinGen	Processing of SMDT1
		SURF1	Unknown	—	Disgenet, ClinGen	TP53 Regulates Metabolic Genes Respiratory electron transport
		TIMM50	Unknown	—	Disgenet	—
		TK2	Unknown	—	Disgenet, ClinGen	Pyrimidine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
		TMEM126B	Unknown	—	Disgenet, ClinGen	Complex I biogenesis
		TOP3A	Unknown	—	Disgenet	Homologous recombination Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +8 more
		TP53	Unknown	30673822	CTD, Disgenet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		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	—
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
		YARS2	Unknown	—	Disgenet, ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
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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