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: rs201736037
rs201736037
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: rs201736037
rs201736037
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: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500 2016
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. 27066573 2015
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 CausalMutation CLINVAR Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. 20694146 2010
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 CausalMutation CLINVAR Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. 18563459 2008
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. 18563459 2008
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 CausalMutation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 18055493 2007
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 CausalMutation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361 2005
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. 11371436 2001
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. 11166169 2001
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 GeneticVariation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		G 0.800 CausalMutation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340 1999
dbSNP: rs201736037
rs201736037
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: rs201736037
rs201736037
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
dbSNP: rs201736037
rs201736037
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: rs201736037
rs201736037
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: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 9266733 1997
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160 1997
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690 1996
dbSNP: rs201736037
rs201736037
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995