Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease BEFREE These novel approaches may be clinically relevant not only for LGMDR1 but also for other muscular dystrophies with secondary calpainopathy or with abnormal Ca<sup>2+</sup> homeostasis, such as LGMD2B/LGMDR2 or sporadic inclusion body myositis. 31540302 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature. 25663498 2015
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 AlteredExpression disease BEFREE The current study aimed to analyze calpain-3 expression in cases diagnosed as muscular dystrophy from the Indian population. 22825607 2012
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE Here we show that mutations in muscular dystrophy genes (Dmd, Dysf, Capn3, Large) lead to the spontaneous formation of skeletal muscle-derived malignant tumors in mice, presenting as mixed rhabdomyo-, fibro-, and liposarcomas. 21533183 2011
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease MGD Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. 20592470 2010
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease LHGDN [Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. 19048948 2008
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease BEFREE Its definitive diagnosis is laborious, since the clinical phenotype is often similar to other types of muscular dystrophy and since the CAPN3 gene encompasses a large genomic region with more than 300 pathogenic mutations described to date. 18563459 2008
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease LHGDN Loss of these CAPN3-mediated activities can explain the "progressive" development of muscular dystrophy. 18974005 2008
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease BEFREE Loss of these CAPN3-mediated activities can explain the "progressive" development of muscular dystrophy. 18974005 2008
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE We screened 48 unrelated Bulgarian cases with preliminary diagnoses of different types of muscular dystrophy for mutations in the CAPN3 gene. 17318636 2007
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia. 16100770 2005
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease LHGDN Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 15221789 2004
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease MGD In vitro studies revealed that C3 can bind and cleave titin and that some mutations that are pathogenic in human muscular dystrophy result in reduced affinity of C3 for titin. 15138196 2004
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE We studied dysferlin expression in a total of 176 patients, from 166 LGMD families: 12 LGMD2B patients, 70 with other known forms of muscular dystrophies (LGMD2A, sarcoglycanopathies, LGMD2G), in an attempt to assess the effect of the primary gene-product deficiency on dysferlin. 11665864 2001
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease MGD Allele transmission in intercross progeny demonstrated a statistically significant departure from Mendel's law. capn3-deficient mice show a mild progressive muscular dystrophy that affects a specific group of muscles. 11134085 2000
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 GeneticVariation disease BEFREE The authors studied the calpain III gene in 107 MD patient muscle biopsies exhibiting normal dystrophin. 10102422 1999
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease BEFREE Calpain-3 deficiency causes a mild muscular dystrophy in childhood. 9309711 1997
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 CausalMutation disease CLINVAR
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.400 Biomarker disease HPO