Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model. 25873271

2015
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. 25914343

2015
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V. 25740218

2015
dbSNP: rs144081869
rs144081869
PYGM
T 0.800 GeneticVariation CLINVAR Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V. 25740218

2015
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease? 25240406

2014
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Clinical and molecular characterization of McArdle's disease in Brazilian patients. 23653251

2013
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Additional characterization confirmed a McArdle disease-like phenotype in p.R50X/p.R50X mice, i.e. they had hyperCKaemia and very poor exercise performance, as assessed in the wire grip and treadmill tests (6% and 5% of the wild-type values, respectively). 22730558

2012
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 22250184

2012
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations. 21802952

2011
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Our results confirm that the p.R50X nonsense mutation is also the most common associated with myophosphorylase deficiency in the Southern French population: 21 of 25 French unrelated patients (15 homozygous and six heterozygous, i.e., 72% of the mutated alleles). 17324573

2007
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR McArdle disease, a common metabolic myopathy with autosomal recessive inheritance, is caused by a frequent R50X mutation and many rare mutations in the myophosphorylase gene. 17404776

2007
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. 17221871

2007
dbSNP: rs144081869
rs144081869
PYGM
T 0.800 GeneticVariation CLINVAR Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. 17404776

2007
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. 16786513

2006
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 12031624

2002
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 11706962

2001
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 11706962

2001
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10714589

2000
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 10681080

2000
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10899452

2000
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10590419

2000
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. 10382911

1999
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. 10382912

1999
dbSNP: rs144081869
rs144081869
PYGM
0.800 GeneticVariation UNIPROT A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact. 10417800

1999
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Molecular genetic analysis of McArdle's disease in Spanish patients. 9674815

1998