Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker 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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker 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
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.400 Biomarker 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