Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 12031624

2002
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 11706962

2001
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10899452

2000
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 10681080

2000
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10590419

2000
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10714589

2000
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact. 10417800

1999
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. 10382912

1999
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease. 10382911

1999
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT Mutation analysis in myophosphorylase deficiency (McArdle's disease). 9506549

1998
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT The molecular genetic basis of myophosphorylase deficiency (McArdle's disease). 7603523

1995
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease). 8535454

1995
dbSNP: rs776680924
rs776680924
PYGM
0.700 GeneticVariation UNIPROT Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). 8316268

1993