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: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 21204801 2011
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 21204801 2011
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR [Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)]. 20044116 2010
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 CausalMutation CLINVAR Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation. 11731278 2002
dbSNP: rs767739787
rs767739787
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation. 11731278 2002