CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Disorder of eye ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.030 Biomarker group 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
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.030 GeneticVariation group BEFREE CAPN5 mutations have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a blinding autoimmune eye disease. 25856303 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.030 Biomarker group BEFREE CAPN5 is only the second member of the large calpain gene family to cause a human Mendelian disorder, and this is the first report of a specific molecular cause for autoimmune eye disease. 23055945 2012