CERKL, ceramide kinase like, 375298

N. diseases: 50; N. variants: 22
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 GeneticVariation disease BEFREE Furthermore, under a recessive model, the cone-rod dystrophy gene CERKL approached study-wide significance. 30926958 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 GeneticVariation disease BEFREE CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. 19578027 2009