Gene: CAPN3 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. 27500519 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. 28403181 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR Calpainopathy with macrophage-rich, regional inflammatory infiltrates. 28602176 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 27447704 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342 2017
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR Natural history of LGMD2A for delineating outcome measures in clinical trials. 27081656 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 CausalMutation disease CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 27023906 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 CausalMutation disease CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. 27142102 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 27259757 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease CLINVAR Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle. 27055500 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. 26632398 2016