Coenzyme q10 deficiency | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COENZYME Q10 DEFICIENCY	C1843920 MONDO:0018151	COQ8A	Unknown	18319072 18319074 27499294 29159460 32337771	Disgenet, GWAS catalog	—
		COQ9	Unknown	—	Disgenet	—
		PDSS1	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Ubiquinol biosynthesis
		PDSS2	Unknown	—	Disgenet	Terpenoid backbone biosynthesis Ubiquinol biosynthesis
COENZYME Q10 DEFICIENCY, PRIMARY, 1	C3551954 MONDO:0011829 OMIM:607426	APTX	Unknown	—	CTD, ClinVar, Disgenet	Base excision repair
COENZYME Q10 DEFICIENCY, PRIMARY, 2	C3553354 614651 OMIM:614651	ABI1	Unknown	—	Disgenet	Pathogenic Escherichia coli infection Salmonella infection Regulation of actin dynamics for phagocytic cup formation +3 more
COENZYME Q10 DEFICIENCY, PRIMARY, 2	C3553354 614651 OMIM:614651	PDSS1	Unknown	—	CTD, Disgenet, HPO	Terpenoid backbone biosynthesis Ubiquinol biosynthesis
COENZYME Q10 DEFICIENCY, PRIMARY, 4	612016 OMIM:612016	COQ8A	Unknown	18319072 29159460 32337771 32553579 32743982 37636224 38429489	CTD, HPO	—
COENZYME Q10 DEFICIENCY, PRIMARY, 5	614654 C3553374 OMIM:614654	COQ9	Unknown	19375058	CTD, Disgenet, HPO	—
COENZYME Q10 DEFICIENCY, PRIMARY, 6	614650 C3553349 OMIM:614650	COQ6	Unknown	—	CTD, Disgenet, HPO	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
COENZYME Q10 DEFICIENCY, PRIMARY, 6	614650 C3553349 OMIM:614650	ENTPD5	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Metabolic pathways +3 more
COENZYME Q10 DEFICIENCY, PRIMARY, 7	616276 OMIM:616276	COQ4	Unknown	—	CTD, HPO	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
COENZYME Q10 DEFICIENCY, PRIMARY, 8	616733 C4225226 OMIM:616733	COQ7	Unknown	—	CTD, Disgenet, HPO	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
COENZYME Q10 DEFICIENCY, PRIMARY, 9	619028 C5436638 MONDO:0033615	COQ5	Unknown	21937992 23597238 29044765 9083048	ClinVar, Disgenet, HPO, Orphanet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors