Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004