CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Disease: Unspecified visual loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.020 Biomarker phenotype BEFREE The vision loss in CLN5 deficient mice is primarily caused by photoreceptor degeneration. 28487519 2017
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.020 Biomarker phenotype BEFREE The Cln5-/- mice showed loss of vision and accumulation of autofluorescent storage material in the central nervous system (CNS) and peripheral tissues without prominent brain atrophy. 15459177 2004