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: rs121434544 ×

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:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

27708273

2017

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

27708273

2017

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Respiratory chain deficiency in nonmitochondrial disease.

27066545

2015

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Respiratory chain deficiency in nonmitochondrial disease.

27066545

2015

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Protein sequences encode safeguards against aggregation.

19156839

2009

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Screening of the CAPN3 gene in patients with possible LGMD2A.

16650086

2006

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Screening of the CAPN3 gene in patients with possible LGMD2A.

16650086

2006

dbSNP:

rs121434544

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:

rs121434544

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:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.

10102422

1999

dbSNP:

rs121434544

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:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.

10102422

1999

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.

9642272

1998

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

CLINVAR

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.

9642272

1998

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

9150160

1997

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

8624690

1996

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

CausalMutation

CLINVAR

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

7720071

1995

dbSNP:

rs121434544

Entrez Id:	825
Gene Symbol:	CAPN3

CAPN3

CUI:	C1869123
Disease:

Limb-girdle muscular dystrophy type 2A

0.800

GeneticVariation

UNIPROT