CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 AlteredExpression phenotype BEFREE CAPN5 is moderately expressed in the retina and, despite higher expression in other tissues, hyperactive disease mutants of CAPN5 only manifest as eye disease. 27152965 2016