Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.120 GeneticVariation CLINVAR A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 18978954

2008

Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.120 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004