Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		0.010 GeneticVariation BEFREE Three different novel, homozygous mutations in CAPN1 were found: c.2118+1G > T, c.397C > T, c.843+1G > C. The patient with the earliest onset also manifested profound muscle weakness, likely related to a second homozygous mutation in DYSF (dysferlinopathy). 30572172

2019