Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
mitochondrial disease	MONDO:0044970	GOT2	Unknown	—	ClinGen	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
		GTPBP3	Unknown	25434004 28732077 29390138 30916346 34276756	ClinGen, Disgenet	—
		GUK1	Unknown	—	GenCC	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		IARS2	Unknown	—	ClinGen	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		IBA57	Unknown	23462291 25609768 25971455 27785568 28913435 33007329	CTD, ClinGen	—
		IDH2	Unknown	20847235 24049096 24589777 27469509 33340416 35359529	ClinGen, GWAS catalog	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +7 more
		ISCA2	Unknown	22323289 25539947 25558065 28803783 29122497 29297947 29359243 31279336 32424628 33340416	ClinGen, GWAS catalog	Mitochondrial iron-sulfur cluster biogenesis
		ISCU	Unknown	18296749 18304497 1918374 19567699 20206689 24573684 27783661 33340416 35079622 8254022	ClinGen	Mitochondrial iron-sulfur cluster biogenesis
		L2HGDH	Unknown	15385440 16134148 17475916 24573090 25982940 28137912 29980873 33839641 34270333 34719772	ClinGen, GWAS catalog	Butanoate metabolism Metabolic pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
		LIAS	Unknown	—	ClinGen	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		LIG3	Unknown	—	ClinGen	Base excision repair Resolution of AP sites via the single-nucleotide replacement pathway APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway +3 more
		LIPT2	Unknown	28757203 28803783	ClinGen, GWAS catalog	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		LRPPRC	Unknown	12529507 20677761 21266382 22045337 25428350 25835550 26510951 28575497 32972427 33340416 38046674	ClinGen, GWAS catalog	TP53 Regulates Metabolic Genes Respiratory electron transport
		LYRM7	Unknown	23168492 24014394 25914718 26912632 28844695	CTD, ClinGen	—
		MARS2	Unknown	22448145 25754315 29980628	ClinGen, ClinVar	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		MGME1	Unknown	23313956 28711739 29572490 33340416 35533204 37429773	ClinGen, GWAS catalog	—
		MICOS13	Unknown	25997101 27485409 27623147 29618761 32749073 33340416	ClinGen, GWAS catalog	—
		MICU1	Unknown	24336167 27477272 29721912 33969448 35302860	ClinGen, GWAS catalog	Mitochondrial calcium ion transport Processing of SMDT1
		MICU2	Unknown	24560927 26903221 29053821 29073106	ClinGen, GWAS catalog	Mitochondrial calcium ion transport Processing of SMDT1
		MIEF2	Unknown	—	ClinGen	—
		MIPEP	Unknown	27391121 27799064 31607746 33340416 34620555 35598585	ClinGen, GWAS catalog	—
		MPC1	Unknown	22628558 33340416 34873722 36079864	ClinGen, GWAS catalog	Diabetic cardiomyopathy
		MRPL12	Unknown	—	ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPL24	Unknown	—	ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPL3	Unknown	21786366 27815843 32341096 34008913	CTD, ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPL38	Unknown	—	ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MRPL44	Unknown	23315540 25797485 33340416 33742325 34140213	ClinGen, GWAS catalog	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS14	Unknown	—	ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPS16	Unknown	15505824	ClinGen, Disgenet	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPS2	Unknown	—	ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPS22	Unknown	17873122 18539099 21189481 25663021 29566152	ClinGen, GWAS catalog	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS23	Unknown	—	ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS25	Unknown	11279123 31039582	ClinGen, GWAS catalog	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS28	Unknown	11279123 30566640	ClinGen, GWAS catalog	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS7	Unknown	—	ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MSTO1	Unknown	17349998 28544275 29255146 29339779 30684668 31463572 33612823 9144213	ClinGen, Disgenet	—
		MTO1	Unknown	22608499 23929671 25058219 25506927 29331171 33340416 33836087 34547275	ClinGen, GWAS catalog	—
		MTPAP	Unknown	15769737 20970105 27391121 31779033 32376682 33340416 35235001	ClinGen, GWAS catalog	—
		MTRFR	Unknown	20598281 22821833 23188110 24198383 24284555 25995486 26380172 27858754	ClinGen, GWAS catalog	—
		NAXD	Unknown	30576410 31755961 32462209 33340416 36834994	ClinGen, GenCC	Nicotinamide salvaging
		NAXE	Unknown	—	ClinGen	Nicotinamide salvaging
		NDUFA1	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA10	Unknown	19672299 21150889 22200994 26741492 27509854 27626371 28247337 35094435 35379322 36270260	CTD, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA11	Unknown	18306244 24191001 27626371 30531981 31074871 32712949 34106255	ClinGen, GWAS catalog	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA12	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA13	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA2	Unknown	18513682 22822087 27159321 27626371 28857146 32154054 33340416	CTD, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA8	Unknown	27626371 27626380 32385911 33153867 33340416	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA9	Unknown	—	ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFAF1	Unknown	17557076 18940309 21931170 22387847 23226344 27509854 27626371	ClinGen, Disgenet	Thermogenesis Complex I biogenesis
MITOCHONDRIAL DISEASES	C0751651 MESH:D028361	GTPBP3	Unknown	—	Disgenet, ClinGen	—
		GUK1	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +1 more
		IBA57	Unknown	—	Disgenet, ClinGen	—
		IDH2	Unknown	—	Disgenet, ClinGen	Citrate cycle (TCA cycle) Glutathione metabolism Metabolic pathways +7 more
		ISCA2	Unknown	—	Disgenet, ClinGen	Mitochondrial iron-sulfur cluster biogenesis
		ISCU	Unknown	—	Disgenet, ClinGen	Mitochondrial iron-sulfur cluster biogenesis
		L2HGDH	Unknown	—	Disgenet, ClinGen	Butanoate metabolism Metabolic pathways Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
		LIPT2	Unknown	—	Disgenet, ClinGen	Lipoic acid metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		LRPPRC	Unknown	—	Disgenet, ClinGen	TP53 Regulates Metabolic Genes Respiratory electron transport
		LYRM7	Unknown	—	Disgenet, ClinGen	—
		MARS2	Unknown	—	Disgenet, ClinGen	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		MGME1	Unknown	23313956	CTD, Disgenet, ClinGen	—
		MICOS13	Unknown	—	Disgenet, ClinGen	—
		MICU1	Unknown	—	Disgenet, ClinGen	Mitochondrial calcium ion transport Processing of SMDT1
		MICU2	Unknown	—	Disgenet, ClinGen	Mitochondrial calcium ion transport Processing of SMDT1
		MIPEP	Unknown	—	Disgenet, ClinGen	—
		MPC1	Unknown	—	Disgenet, ClinGen	Diabetic cardiomyopathy
		MRPL3	Unknown	—	Disgenet, ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPL44	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS16	Unknown	—	Disgenet, ClinGen	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
		MRPS22	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS25	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS28	Unknown	—	Disgenet, ClinGen	Mitochondrial translation elongation Mitochondrial translation termination
		MSTO1	Unknown	—	Disgenet, ClinGen	—
		MTO1	Unknown	—	Disgenet, ClinGen	—
		MTPAP	Unknown	—	Disgenet, ClinGen	—
		MTRFR	Unknown	—	Disgenet, ClinGen	—
		NAXD	Unknown	—	Disgenet, ClinGen	Nicotinamide salvaging
		NDUFA10	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA11	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA2	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFA8	Unknown	—	Disgenet, ClinGen	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		NDUFAF1	Unknown	—	Disgenet, ClinGen	Thermogenesis Complex I biogenesis

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Mitochondrial disease

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