CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016