CAPN5, calpain 5, 726

N. diseases: 46; N. variants: 10
Disease: Proliferative vitreoretinopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.710 Biomarker disease BEFREE The CAPN5-NIV vitreous proteome displayed characteristic enrichment of proteins and pathways previously-associated with non-infectious posterior uveitis, rhegmatogenous retinal detachment (RRD), age-related macular degeneration (AMD), proliferative diabetic retinopathy (PDR), and proliferative vitreoretinopathy (PVR). 31110225 2019
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.710 GermlineCausalMutation disease ORPHANET Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 23055945 2012
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.710 GeneticVariation disease UNIPROT Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. 23055945 2012
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.710 Biomarker disease CTD_human
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy 		0.710 CausalMutation disease CLINVAR