Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11	324535 C5190991 MONDO:0013969	RMND1	Causal	23022098 23022099	CTD, ClinVar, Disgenet, Orphanet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13	319514 MONDO:0013977 C4706283	PNPT1	Causal	23084291	ClinVar, Orphanet, Disgenet	RNA degradation
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14	319519 C4755312 MONDO:0013986	FARS2	Causal	22499341 22833457 25851414 27549011 27652284	ClinVar, Disgenet, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15	C4706313 319524 MONDO:0013987	MTFMT	Causal	21907147 30911575 24461907 32133637 23499752	Disgenet, ClinVar, HPO, Orphanet	Aminoacyl-tRNA biosynthesis Metabolic pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17	369913 MONDO:0014190	ELAC2	Causal	23849775 27769300	ClinVar, Disgenet, Orphanet	tRNA processing in the nucleus tRNA processing in the mitochondrion rRNA processing in the mitochondrion
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	420728 MONDO:0014397	VARS2	Causal	24827421 25058219 29313548 29314458 6257493	ClinVar, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20	420728 MONDO:0014397	VARS1	Unknown	24827421 25058219	GenCC	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21	420733 MONDO:0014398 C4706316	TARS2	Causal	24827421 26811336 33153448 36218002	CTD, ClinVar, Orphanet, Disgenet	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23	444013 C5567743 MONDO:0014525	GTPBP3	Causal	25434004	ClinVar, Disgenet, GWAS catalog, Orphanet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24	444458 C4015643 MONDO:0014547	NARS2	Causal	25385316 34415467 28077841 30327238 25807530 25629079 32020600 28716262 35703918	ClinVar, Disgenet, HPO, Orphanet	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24	444458 C4015643 MONDO:0014547	RTEL1	Causal	—	Disgenet	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25	447954 C5567742 MONDO:0014636	MARS2	Causal	25754315	ClinVar, Disgenet, GenCC, Orphanet	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26	477684 C5567741 MONDO:0014684	TRMT5	Causal	26189817 29021354 35109800 35342985	ClinVar, Disgenet, GWAS catalog, Orphanet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 27	477774 C5567608 MONDO:0014728	CARS2	Causal	25361775 25363768 25787132 30139652	ClinGen, ClinVar, Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis
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 30	478042 C5567605 MONDO:0014856	TRMT10C	Causal	27132592	ClinVar, Disgenet, GWAS catalog, Orphanet	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 39	565624 C5193075	GFM2	Unknown	22700954 26016410 29075935	Disgenet, Orphanet	Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4	254925 MONDO:0012534	TUFM	Causal	17160893	ClinVar, GWAS catalog, Orphanet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 7	254930 MONDO:0013306	MTRFR	Causal	20598281 24424123 23188110 24080142 24198383 27858754 26380172 24284555	ClinVar, GWAS catalog, Orphanet	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8	319504 C4518839 MONDO:0013570	AARS2	Causal	21549344 25058219 29440775 30285085 30819764	ClinVar, Disgenet, GenCC, Orphanet	Aminoacyl-tRNA biosynthesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9	319509 MONDO:0013811 C4706315	MRPL3	Causal	2137204 21786366 27815843 28074886 32341096 34008913	ClinVar, GWAS catalog, Orphanet, Disgenet	Ribosome Mitochondrial translation elongation 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	615595 C3810055 MONDO:0014269 OMIM:615595	LYRM4	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Mitochondrial iron-sulfur cluster biogenesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19	615595 C3810055 MONDO:0014269 OMIM:615595	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 22	616045 C4015062 MONDO:0020727 OMIM:616045	ATP5F1A	Causal	17387143 23596069	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
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 28	616794 MONDO:0014775 OMIM:616794	SLC25A26	Causal	—	CTD, ClinVar, GenCC, HPO	Transport of inorganic cations/anions and amino acids/oligopeptides
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29	616811 MONDO:0014781 OMIM:616811	TXN2	Causal	12529397 18164269 26626369	CTD, ClinVar, GWAS catalog, HPO	NOD-like receptor signaling pathway Parkinson disease Salmonella infection +3 more
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	617664 C4540029 MONDO:0054654	MRPS34	Causal	28777931	ClinVar, Disgenet, GWAS catalog, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664 C4540029 MONDO:0054654	EME2	Unknown	—	Disgenet	Fanconi anemia pathway Resolution of D-loop Structures through Holliday Junction Intermediates Fanconi Anemia Pathway
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713 C4540209 MONDO:0054677	C1QBP	Causal	28498888 28942965	ClinVar, Disgenet, GWAS catalog, HPO	Apoptotic factor-mediated response Intrinsic Pathway of Fibrin Clot Formation Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
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 35	617873 C4693466 MONDO:0054742	TRIT1	Causal	1914216 24901367 28185376 31140736	ClinVar, Disgenet, HPO	Metabolic pathways tRNA modification in the mitochondrion
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36	617950 C4693722 MONDO:0054781	MRPS2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37	618329 C5193031 MONDO:0032679	MICOS13	Causal	—	ClinVar, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38	618378 C5193064 MONDO:0032712	MRPS14	Causal	30358850	ClinVar, Disgenet, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39	618397 MONDO:0032726	GFM2	Causal	—	ClinVar, GenCC, HPO	Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4	610678 C1857682 MESH:C565690	TUFM	Unknown	17160893	CTD, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40	618835 MONDO:0030006	QRSL1	Causal	26741492 29440775 30283131 35894854	ClinVar, GWAS catalog, HPO	Aminoacyl-tRNA biosynthesis Metabolic pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41	618838 C5394236 MONDO:0030007	GATB	Causal	—	ClinVar, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Metabolic pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42	618839 C5394237 MONDO:0030008	GATC	Causal	30283131	ClinVar, Disgenet, GWAS catalog, HPO	Aminoacyl-tRNA biosynthesis Metabolic pathways
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43	618851 C5394284 MONDO:0030017	TIMM22	Causal	30452684	ClinVar, Disgenet, GenCC, HPO	Mitochondrial protein import
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44	618855 C5394293 MONDO:0030020	FASTKD2	Causal	18771761 25497598 26370583	ClinVar, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45	618951 C5436461 MONDO:0033533	MRPL12	Causal	23603806	ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46	618952 C5436466 MONDO:0033534	MRPS23	Causal	26741492	ClinVar, Disgenet, HPO	Mitochondrial translation elongation Mitochondrial translation termination
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 7	613559 C3150801 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

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Combined oxidative phosphorylation deficiency

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