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: 5255
Gene Symbol: PHKA1
PHKA1
phosphorylase kinase regulatory subunit alpha 1 0.839 0.115 2.1E-07
CUI: C1845151
Disease: Glycogen Storage Disease, Type IXD
Glycogen Storage Disease, Type IXD
disease 0.900 strong 1.000 3 0 1970 2016