Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 24488599

2014
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Analysis of the DYSF mutational spectrum in a large cohort of patients. 18853459

2009
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. 18276788

2008
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset. 18832576

2008
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.700 CausalMutation CLINVAR Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. 16010686

2005
dbSNP: rs746873768
rs746873768
DYSF
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 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