Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease GENOMICS_ENGLAND The current data add to the list of pathogenic mutations in the PYGM gene associated with McArdle disease. 21880526 2011
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease CTD_human Metabolic myopathies discovered during investigations of statin myopathy. 18380285 2008
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease GENOMICS_ENGLAND Phenotype modulators in myophosphorylase deficiency. 12666117 2003
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease CTD_human Phenotype modulators in myophosphorylase deficiency. 12666117 2003
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 12031624 2002
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 11706962 2001
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10899452 2000
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10714589 2000
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10590419 2000
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 10681080 2000
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10417800 1999
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. 10382912 1999
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. 10382911 1999
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). 9506549 1998
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT We have identified ten mutations in the myophosphorylase gene in patients with McArdle's disease. 7603523 1995
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). 8535454 1995
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GeneticVariation disease UNIPROT The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis of McArdle's disease is not known. 8316268 1993
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease GENOMICS_ENGLAND The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis of McArdle's disease is not known. 8316268 1993
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		1.000 GermlineCausalMutation disease ORPHANET
Entrez Id: 1636
Gene Symbol: ACE
ACE 		0.340 Biomarker disease CTD_human In a large cohort of patients with myophosphorylase deficiency, we tested the hypothesis that polymorphic variants in either myoadenylate deaminase (MADA) or angiotensin-converting enzyme (ACE) could act as modulators of phenotype expression.Forty-seven patients were evaluated. 12666117 2003