Disease: Glycogen storage disease, type IX ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		0.120 GeneticVariation disease BEFREE Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. 24326380 2014
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		0.120 GeneticVariation disease BEFREE Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 9215682 1997
CUI: C0268147
Disease: Glycogen storage disease, type IX
Glycogen storage disease, type IX 		0.120 GeneticVariation disease 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