Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2	254920 MONDO:0012510	MRPS16	Unknown	15505824 18539099 28749478	ClinVar, GWAS catalog, Orphanet	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20	MONDO:0014397	VARS1	Unknown	24827421 25058219	GenCC	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 28	C5569081	SLC25A26	Unknown	—	Disgenet	Transport of inorganic cations/anions and amino acids/oligopeptides
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 29	478029 C5567607 MONDO:0033187	TXN2	Unknown	26626369	Disgenet, GWAS catalog, Orphanet	NOD-like receptor signaling pathway Parkinson disease Salmonella infection +3 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 39	565624 C5193075	GFM2	Unknown	22700954 26016410 29075935	Disgenet, Orphanet	Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	MONDO:0000732	TOMM70	Unknown	—	GenCC	Mitophagy - animal Pink/Parkin Mediated Mitophagy Ub-specific processing proteases
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	609060 C1836797 MESH:C563797	GFM1	Unknown	17160893	CTD, Disgenet, HPO	Mitochondrial translation elongation
		MRPL44	Unknown	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		MRPS22	Unknown	—	Disgenet	Mitochondrial translation elongation Mitochondrial translation termination
		NARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis
		VARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10	614702 OMIM:614702	MTO1	Unknown	—	CTD, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11	614922 OMIM:614922	RMND1	Unknown	—	CTD, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	614924 OMIM:614924	EARS2	Unknown	—	CTD, HPO	Porphyrin metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13	614932 OMIM:614932	PNPT1	Unknown	—	CTD, HPO	RNA degradation
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14	614946 OMIM:614946	FARS2	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15	614947 OMIM:614947	MTFMT	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis Metabolic pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	615395 C3809339 OMIM:615395	MRPL44	Unknown	—	CTD, Disgenet, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	615440 C3809526 OMIM:615440	ELAC2	Unknown	—	CTD, Disgenet, HPO	tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18	615578 C3810001 OMIM:615578	SFXN4	Unknown	—	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19	C3810055	FARS2	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2	610498 C1864843 MESH:C566468	MRPS16	Unknown	—	CTD, Disgenet, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20	C4014660 615917 OMIM:615917	VARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20	C4014660 615917 OMIM:615917	VARS2	Unknown	—	CTD, Disgenet, HPO	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21	615918 OMIM:615918	TARS2	Unknown	24827421 33153448 34508595 37454282	CTD, HPO	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	616198 OMIM:616198	GTPBP3	Unknown	—	CTD, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24	616239 OMIM:616239	NARS2	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25	616430 OMIM:616430	MARS2	Unknown	—	CTD, HPO	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27	616672 OMIM:616672	CARS2	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	C1864840 610505 MESH:C566467	AVIL	Unknown	—	Disgenet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3	C1864840 610505 MESH:C566467	TSFM	Unknown	—	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30	616974 OMIM:616974	TRMT10C	Unknown	—	CTD, HPO	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31	617228 C4310661 OMIM:617228	MIPEP	Unknown	—	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	C4540029	EME2	Unknown	—	Disgenet	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	617872 MONDO:0054741	MRPS7	Unknown	25556185 36421788	ClinVar, GWAS catalog, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	610678 C1857682 MESH:C565690	TUFM	Unknown	17160893	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47	C5436476	TPD52-MRPS28	Unknown	—	Disgenet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5	611719 C2673642 MESH:C567126	MRPS22	Unknown	17873122	CTD, Disgenet, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52	619386 C5543592 MONDO:0030311	NFS1	Unknown	16787928 16847322 24498631 33457206	ClinVar, Disgenet, HPO	Thiamine metabolism Metabolic pathways Biosynthesis of cofactors +3 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58	620451 C5830641 MONDO:0957537	TEFM	Unknown	36823193	ClinVar, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	300816 C3151753 OMIM:300816	AIFM1	Unknown	20362274 23217327	CTD, Disgenet, HPO	Apoptosis Necroptosis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	300816 C3151753 OMIM:300816	RAB33A	Unknown	—	Disgenet	TBC/RABGAPs RAB geranylgeranylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 60	621195	MRPL49	Unknown	40043708	ClinVar	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7	C3150801 613559 OMIM:613559	MPHOSPH9	Unknown	—	Disgenet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7	C3150801 613559 OMIM:613559	MTRFR	Unknown	20598281 23188110 24080142 24198383 24284555 24424123 26380172 27858754	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	614096 OMIM:614096	AARS2	Unknown	—	CTD, HPO	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9	614582 OMIM:614582	MRPL3	Unknown	—	CTD, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination

Combined oxidative phosphorylation deficiency

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