Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT A new phenotype of dysferlinopathy with congenital onset. 19084402

2009
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Dysferlin-deficient muscular dystrophy features amyloidosis. 18306167

2008
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. 17185750

2007
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Symptomatic dysferlin gene mutation carriers: characterization of two cases. 17287450

2007
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. 16705711

2006
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. 16996541

2006
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 16010686

2005
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. 16100712

2005
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. 15469449

2004
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. 14678801

2003
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. 11134403

2000
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). 10196377

1999
dbSNP: rs34999029
rs34999029
DYSF
0.700 GeneticVariation UNIPROT Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. 9731526

1998