Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
disease 0.730 None 1.000 2 0 2008 2016
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
ATPase H+ transporting V0 subunit a2 0.570 0.692 2.6E-11
Cutis Laxa, Autosomal Recessive, Type IIA
disease 0.700 None 1.000 2 0 2008 2013