Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013