| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | BEFREE | Dermal fibroblasts from an autosomal recessive retinitis pigmentosa (RP) patient, homozygous for the mutation c.769 C>T, p.Arg257Ter, in CERKL (Ceramide Kinase-Like) gene, and a healthy sibling were derived and reprogrammed by Sendai virus. | 31082679 | 2019 |
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A | 0.730 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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A | 0.730 | CausalMutation | CLINVAR | The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. | 25999674 | 2015 |
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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 |
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|
A | 0.730 | CausalMutation | CLINVAR | Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. | 22164218 | 2011 |
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|
A | 0.730 | CausalMutation | CLINVAR | Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. | 21151602 | 2010 |
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|
0.730 | GeneticVariation | 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 |
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|
0.730 | GeneticVariation | BEFREE | Furthermore, we propose that the cause for retinitis pigmentosa</span> in patients bearing the CERKL R257X</span> mutation might be the accumulation of a truncated CERKL protein in the nucleus. | 15708351 | 2005 |
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|
A | 0.730 | CausalMutation | CLINVAR | Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). | 14681825 | 2004 |