DYSF, dysferlin, 8291

N. diseases: 12; N. variants: 189
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757917335
rs757917335
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy. 28104817 2017
dbSNP: rs1057521141
rs1057521141
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Dysferlin mutations and mitochondrial dysfunction. 27666772 2016
dbSNP: rs1057521141
rs1057521141
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406 2016
dbSNP: rs121908955
rs121908955
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair. 27641898 2016
dbSNP: rs121908955
rs121908955
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406 2016
dbSNP: rs121908963
rs121908963
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. 27229680 2016
dbSNP: rs201049092
rs201049092
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Respiratory and cardiac function in japanese patients with dysferlinopathy. 26088049 2016
dbSNP: rs202218890
rs202218890
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 CausalMutation CLINVAR Replacement of arginine in position 959 by tryptophan has been frequently associated with both LGMD2B and MM, but the molecular mechanisms by which this mutation alters dysferlin function remain unknown. 26806107 2016
dbSNP: rs746243052
rs746243052
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186 2016
dbSNP: rs757917335
rs757917335
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy. 27647186 2016
dbSNP: rs886043900
rs886043900
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR The Clinical Outcome Study for dysferlinopathy: An international multicenter study. 27602406 2016
dbSNP: rs150877497
rs150877497
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy. 25868377 2015
dbSNP: rs201049092
rs201049092
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases. 26404900 2015
dbSNP: rs377735262
rs377735262
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Mycophenolate mofetil in the treatment of multiple sclerosis: a preliminary report. 25591678 2015
dbSNP: rs746243052
rs746243052
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. 25591676 2015
dbSNP: rs757917335
rs757917335
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015
dbSNP: rs150877497
rs150877497
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. 24488599 2014
dbSNP: rs377735262
rs377735262
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Identification of splicing defects caused by mutations in the dysferlin gene. 25312915 2014
dbSNP: rs377735262
rs377735262
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. 23519732 2013
dbSNP: rs121908963
rs121908963
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy. 22297152 2012
dbSNP: rs121908963
rs121908963
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. 23185377 2012
dbSNP: rs377735262
rs377735262
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. 22318734 2012
dbSNP: rs757917335
rs757917335
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		C 0.800 GeneticVariation CLINVAR Dysferlin-peptides reallocate mutated dysferlin thereby restoring function. 23185377 2012
dbSNP: rs121908955
rs121908955
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		T 0.800 GeneticVariation CLINVAR Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. 21522182 2011
dbSNP: rs121908963
rs121908963
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
CUI: C1850889
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		A 0.800 GeneticVariation CLINVAR Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release. 22057634 2011