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	319524 MONDO:0013987 C4706313	MTFMT	Causal	21907147 30911575 24461907 32133637 23499752	ClinVar, HPO, Orphanet, Disgenet	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 20	420728 MONDO:0014397	VARS2	Causal	24827421 25058219 29313548 29314458 6257493	ClinVar, GWAS catalog, Orphanet	Aminoacyl-tRNA biosynthesis
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 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 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	C4706315 319509 MONDO:0013811	MRPL3	Causal	2137204 21786366 27815843 28074886 32341096 34008913	Disgenet, ClinVar, GWAS catalog, Orphanet	Ribosome Mitochondrial translation elongation Mitochondrial translation termination
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 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 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 32	617664 C4540029 MONDO:0054654	MRPS34	Causal	28777931	ClinVar, Disgenet, GWAS catalog, HPO	Mitochondrial translation elongation Mitochondrial translation termination
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 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 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 47	618958 C5436476 MONDO:0033537	MRPS28	Causal	—	ClinVar, Disgenet, GenCC, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48	619012 C5436602 MONDO:0033566	NSUN3	Causal	27356879 32488845	ClinVar, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49	619024 C5436616 MONDO:0033569	MIEF2	Causal	25058219 29361167	ClinVar, Disgenet, GWAS catalog, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50	619025 C5436623 MONDO:0033570	MRPS25	Causal	31039582	ClinVar, Disgenet, GWAS catalog, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51	619057 C5436703 MONDO:0033631	PTCD3	Causal	30607703 35094435 36450274	ClinVar, Disgenet, GWAS catalog, HPO	Mitochondrial translation elongation Mitochondrial translation termination
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53	619423 C5543631 MONDO:0030378	C2ORF69	Causal	33945503 34038740	CTD, ClinVar, Disgenet, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54	619737 C5676912 MONDO:0030543	PRORP	Causal	—	ClinVar, Disgenet, GenCC, HPO	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55	619743 C5676915 MONDO:0859228	POLRMT	Causal	30315573 33602924	ClinVar, Disgenet, HPO, Orphanet	Mitochondrial transcription initiation Transcriptional activation of mitochondrial biogenesis
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56	620139 C5774261 MONDO:0859323	TAMM41	Causal	35321494	ClinVar, Disgenet, GWAS catalog, HPO	—
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57	620167 C5774275 MONDO:0859337	CRLS1	Causal	35147173	ClinVar, Disgenet, GWAS catalog, HPO	Glycerophospholipid metabolism Metabolic pathways Acyl chain remodelling of PG +1 more
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59	620646 C5882730 MONDO:0957992	MRPL39	Causal	—	ClinVar, Disgenet, HPO	Mitochondrial translation elongation Mitochondrial translation termination

Combined oxidative phosphorylation deficiency

Bookmark This Disease