CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Limb-girdle muscular dystrophy type 2A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Rhabdomyolysis featuring muscular dystrophies. 26810512 2016
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200 2016
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. 25079074 2014
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. 20694146 2010
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. 18563459 2008
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. 18334579 2008
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. 17562833 2007
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. 15726252 2005
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003 2005
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Clinical variability in calpainopathy: what makes the difference? 12461690 2002
dbSNP: rs794727697
rs794727697
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999