Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. 27500519

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 27431290

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. 27020652

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function. 28915917

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Calpainopathy with macrophage-rich, regional inflammatory infiltrates. 28602176

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Natural history of LGMD2A for delineating outcome measures in clinical trials. 27081656

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. 26060040

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 27023906

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 27142102

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 27259757

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 GeneticVariation CLINVAR Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group. 27262448

2016

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
Limb-girdle muscular dystrophy type 2A
1.000 CausalMutation CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398

2016