Disease: Glycogen Storage Disease IXB ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34667348
rs34667348
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
CUI: C0543514
Disease:
Glycogen Storage Disease IXB 		T 0.700 CausalMutation CLINVAR Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 9215682 1997