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: rs863224956
rs863224956
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: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 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: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation 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: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 18854869 2009
dbSNP: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003 2005
dbSNP: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. 15138196 2004
dbSNP: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. 11371436 2001
dbSNP: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 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: rs863224956
rs863224956
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: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT