Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 17994553

2008
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN [McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients]. 18808785

2008
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN To date, 46 mutations in the PYGM gene have been detected in GSD-V patients. 16786513

2006
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. 15979037

2005
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene. 16154688

2005
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 AlteredExpression LHGDN Reflex sympathetic activation during static exercise is severely impaired in patients with myophosphorylase deficiency. 12640006

2003
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families. 12398832

2002
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 12031624

2002
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		1.000 GeneticVariation LHGDN A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease. 11749054

2001