Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		0.730 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debré type, and wrinkly skin syndrome (WSS). 22773132

2012
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		0.730 Biomarker GENOMICS_ENGLAND Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debré type, and wrinkly skin syndrome (WSS). 22773132

2012