Gene: CERKL ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease BEFREE Generation of an iPSC line from a retinitis pigmentosa patient carrying a homozygous mutation in CERKL and a healthy sibling. 31082679 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 Biomarker disease BEFREE To date six fly models for RP, including RP4, RP11, RP12, RP14, RP25, and RP26, have been established, and have provided useful information on RP disease biology. 30324448 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease BEFREE Mutations of Ceramide kinase-like (CERKL) gene are associated with retinitis pigmentosa (RP), an inherited degenerative eye disease. 26296657 2015
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 CausalMutation disease CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674 2015
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 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 		0.490 CausalMutation disease CLINVAR Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 24043777 2013
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 CausalMutation disease CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218 2011
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 AlteredExpression disease BEFREE High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse. 21508105 2011
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease BEFREE Retinol Dehydrogenase 12 (RDH12) was the most frequently mutated gene in the juvenile RP group, and Usher Syndrome 2A (USH2A) and Ceramide Kinase-Like (CERKL) were the most frequently mutated genes in the typical RP group. 21151602 2010
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 CausalMutation disease CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602 2010
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease BEFREE Remarkably, CERKL (but not the RP R257X mutant) exerts a protective role in cells against oxidative stress, consistent with RP mutations impairing the normal protein function in photoreceptors and thus tilting the balance toward apoptosis. 19158957 2009
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease BEFREE Furthermore, we propose that the cause for retinitis pigmentosa in patients bearing the CERKL R257X mutation might be the accumulation of a truncated CERKL protein in the nucleus. 15708351 2005
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 CausalMutation disease CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825 2004
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 GeneticVariation disease LHGDN Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825 2004
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.490 Biomarker disease GENOMICS_ENGLAND