DisGeNET - a database of gene-disease associations

CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155

Disease: Limb-girdle muscular dystrophy type 2A ×

Variant: rs776043976 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

27447704

2017

dbSNP:

rs776043976

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:

rs776043976

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:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

26404900

2015

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

26484845

2015

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

25135358

2014

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.

21624972

2011

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Transcriptional and translational effects of intronic CAPN3 gene mutations.

20635405

2010

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

18854869

2009

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

18854869

2009

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

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:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

17318636

2007

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

18055493

2007

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

17318636

2007

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.

17236769

2007

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

16141003

2005

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

15221789

2004

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Calpainopathy-a survey of mutations and polymorphisms.

10330340

1999

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Calpainopathy-a survey of mutations and polymorphisms.

10330340

1999

dbSNP:

rs776043976

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Calpainopathy-a survey of mutations and polymorphisms.

10330340

1999

dbSNP:

rs776043976

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:

rs776043976

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:

rs776043976

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:

rs776043976

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:

rs776043976

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