Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14	319519 C4755312 MONDO:0013986	FARS2	Causal	22499341 22833457 25851414 27549011 27652284	ClinVar Disgenet GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15	319524 MONDO:0013987 C4706313	MTFMT	Causal	21907147 30911575 24461907 32133637 23499752	ClinVar HPO Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17	369913 MONDO:0014190	ELAC2	Causal	23849775 27769300	ClinVar Disgenet Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2	254920 MONDO:0012510	MRPS16	Unknown	15505824 18539099 28749478	ClinVar GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20	420728 MONDO:0014397	VARS2	Causal	24827421 25058219 29313548 29314458 6257493	ClinVar GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 20	420728 MONDO:0014397	VARS1	Unknown	24827421 25058219	GenCC
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 21	420733 MONDO:0014398 C4706316	TARS2	Causal	24827421 26811336 33153448 36218002	CTD ClinVar Orphanet
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24	444458 C4015643 MONDO:0014547	RTEL1	Causal	—	Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25	447954 C5567742 MONDO:0014636	MARS2	Causal	25754315	ClinVar Disgenet GenCC Orphanet
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 28	C5569081	SLC25A26	Unknown	—	Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 29	478029 C5567607 MONDO:0033187	TXN2	Unknown	26626369	Disgenet GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 30	478042 C5567605 MONDO:0014856	TRMT10C	Causal	27132592	ClinVar Disgenet GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 39	565624 C5193075	GFM2	Unknown	22700954 26016410 29075935	Disgenet Orphanet
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9	319509 MONDO:0013811 C4706315	MRPL3	Causal	2137204 21786366 27815843 28074886 32341096 34008913	ClinVar GWAS catalog Orphanet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY	MONDO:0000732	TOMM70	Unknown	—	GenCC
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	609060 C1836797 MESH:C563797	GFM1	Unknown	—	CTD Disgenet HPO
		MRPL44	Unknown	—	Disgenet
		MRPS22	Unknown	—	Disgenet
		NARS2	Unknown	—	Disgenet
		VARS2	Unknown	—	Disgenet
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13	614932 OMIM:614932	PNPT1	Unknown	—	CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14	614946 OMIM:614946	FARS2	Unknown	—	CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15	614947 OMIM:614947	MTFMT	Unknown	—	CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16	615395 C3809339 OMIM:615395	MRPL44	Unknown	—	CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17	615440 C3809526 OMIM:615440	ELAC2	Unknown	—	CTD Disgenet HPO
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
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19	615595 C3810055 MONDO:0014269 OMIM:615595	FARS2	Unknown	—	Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2	610498 C1864843 MESH:C566468	MRPS16	Unknown	—	CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20	C4014660 615917 OMIM:615917	VARS1	Unknown	—	Disgenet
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20	C4014660 615917 OMIM:615917	VARS2	Unknown	—	CTD Disgenet HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21	615918 OMIM:615918	TARS2	Unknown	—	CTD HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22	616045 C4015062 MONDO:0020727 OMIM:616045	ATP5F1A	Causal	17387143 23596069	CTD ClinVar Disgenet GWAS catalog HPO
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23	616198 OMIM:616198	GTPBP3	Unknown	—	CTD HPO

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Combined oxidative phosphorylation deficiency