Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
0.130 GeneticVariation disease BEFREE Furthermore, under a recessive model, the cone-rod dystrophy gene CERKL approached study-wide significance. 30926958 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
0.130 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
0.130 Biomarker disease BEFREE The function of CERKL (CERamide Kinase Like), a causative gene of retinitis pigmentosa and cone-rod dystrophy, still awaits characterization. 24498393 2014
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
0.130 GeneticVariation disease BEFREE CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. 19578027 2009