Disease: Glycogen Storage Disease IXC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GeneticVariation disease BEFREE This study expands our knowledge of the PHKG2 gene mutation spectrum, providing a molecular basis for GSD IXc. 29360628 2018
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GeneticVariation disease CLINVAR Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 12930917 2003
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GeneticVariation disease UNIPROT Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 12930917 2003
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GeneticVariation disease UNIPROT Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). 9245685 1997
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GeneticVariation disease UNIPROT Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. 8896567 1996
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 Biomarker disease CTD_human
CUI: C2751643
Disease: Glycogen Storage Disease IXC
Glycogen Storage Disease IXC 		0.710 CausalMutation disease CLINVAR