Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		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
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 GeneticVariation disease CLINVAR Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 12930917 2003
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 GeneticVariation disease UNIPROT Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. 12930917 2003
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		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
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		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
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 GermlineCausalMutation disease ORPHANET
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 Biomarker disease CTD_human
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.710 CausalMutation disease CLINVAR
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2 		0.300 GermlineCausalMutation disease ORPHANET