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: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 27142102 2016
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 21984748 2012
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 21204801 2011
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Transcriptional and translational effects of intronic CAPN3 gene mutations. 20635405 2010
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. 17318636 2007
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Screening of the CAPN3 gene in patients with possible LGMD2A. 16650086 2006
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. 16100770 2005
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003 2005
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. 15725583 2005
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. 14981715 2004
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. 15351423 2004
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 14578192 2003
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia. 10679950 2000
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995
dbSNP: rs80338800
rs80338800
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		C 0.700 GeneticVariation CLINVAR