CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Vitreoretinal degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.120 Biomarker disease BEFREE Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy. 31110225 2019
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.120 GeneticVariation disease BEFREE This is the third case of a CAPN5 mutation leading to inherited uveitis and neovascular vitreoretinopathy, suggesting patients with ADNIV features should be tested for CAPN5 mutations. 25856303 2015
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.120 Biomarker disease HPO