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: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290 2017
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398 2016
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500 2016
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 27023906 2016
dbSNP: rs121434548
rs121434548
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: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction. 25252031 2014
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. 22378277 2012
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. 21984748 2012
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 21204801 2011
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 18854869 2009
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. 19226146 2009
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Gene expression profiling in limb-girdle muscular dystrophy 2A. 19015733 2008
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 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: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 16971480 2007
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay. 17157502 2007
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 16971480 2007
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. 16372320 2006
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Calpain-3 mutations in Turkey. 16411092 2006
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. 15725583 2005
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 15221789 2004
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 GeneticVariation CLINVAR Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 14578192 2003
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. 14578192 2003
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 9266733 1997
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		A 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071 1995
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A 		0.800 GeneticVariation UNIPROT