CLN5, CLN5 intracellular trafficking protein, 1203

N. diseases: 43; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness
0.010 Biomarker phenotype BEFREE The vision loss in CLN5 deficient mice is primarily caused by photoreceptor degeneration. 28487519 2017