Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406

2016
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900

2015
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. 27858744

2015
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 22194990

2011
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR New aspects on patients affected by dysferlin deficient muscular dystrophy. 19528035

2010
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. 17698709

2007
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Dysferlin expression in monocytes: a source of mRNA for mutation analysis. 17070050

2007
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 16100712

2005
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 16010686

2005
dbSNP: rs398123799
rs398123799
DYSF
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		CA 0.700 CausalMutation CLINVAR Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). 11053681

2000