Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 GeneticVariation CLINVAR Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. 29143597

2017
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 22250184

2012
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 17994553

2008
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
T 0.720 CausalMutation CLINVAR Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 17994553

2008
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
T 0.720 CausalMutation CLINVAR Genotype modulators of clinical severity in McArdle disease. 17630210

2007
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. 17221871

2007
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 GeneticVariation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619

2004
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study. 11706962

2001
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 GeneticVariation CLINVAR A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10590419

2000
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 GeneticVariation CLINVAR A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 10681080

2000
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 10681080

2000
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
G 0.720 CausalMutation CLINVAR A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. 10590419

2000