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: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652 2017
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200 2016
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 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: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 25135358 2014
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Resistance training in patients with limb-girdle and becker muscular dystrophies. 23169433 2013
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Resistance training in patients with limb-girdle and becker muscular dystrophies. 23169433 2013
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. 22443334 2012
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. 22443334 2012
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. 19556129 2009
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A. 19556129 2009
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 17994539 2008
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. 18337726 2008
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. 18337726 2008
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). 11053681 2000
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). 11053681 2000
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A. 9452114 1998
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings. 9655129 1998
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. 9771675 1998
dbSNP: rs149095128
rs149095128
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). 9762961 1998