Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205

2008
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 CausalMutation CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725

2007
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker GENOMICS_ENGLAND Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472

2006
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 GeneticVariation UNIPROT Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472

2006
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker CTD_human

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 GeneticVariation CLINVAR