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

2006
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: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Molecular genetic analysis of McArdle's disease in Spanish patients. 9674815

1998
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. 9131647

1997
dbSNP: rs116987552
rs116987552
PYGM
A 0.800 CausalMutation CLINVAR Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 8316268

1993