PBK, PDZ binding kinase, 55872

N. diseases: 121; N. variants: 2
Disease: Low Vision ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042798
Disease: Low Vision
Low Vision 		0.010 Biomarker disease BEFREE Spark Therapeutics recently reported positive phase III results for SPK-RPE65 targeting the treatment of visual impairment caused by RPE65 gene mutations (often referred to as Leber congenital amaurosis type 2, or LCA2, but may include other retinal disorders), marking an important inflection point for the field of gene therapy. 26684444 2015