Gene: CERKL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 CausalMutation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 CausalMutation CLINVAR Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 24043777

2013
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 CausalMutation CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218

2011
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 CausalMutation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602

2010
dbSNP: rs121909398
rs121909398
CERKL
A 0.730 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004
dbSNP: rs753994107
rs753994107
CERKL
C 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1553513437
rs1553513437
CERKL
G 0.700 GeneticVariation CLINVAR