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CERKL and retinal dystrophy are reported together in 2 articles.
Gene
CERKL
- HGNC
- HGNC:21699
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinal dystrophy
- HPO
- HP:0000556
121articles
121mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.
PMID 37331655 | PMCID PMC11108804 | DOI 10.1016/j.oret.2023.06.007 · Ophthalmology. Retina · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CERKL | “SUBJECTS: Forty-seven patients (37 families) with likely disease-causing CERKL variants.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.” | 0.98 | phenotype_alias_lexicon_v2 |
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
PMID 28130426 | PMCID PMC5407181 | DOI 10.1152/physiolgenomics.00096.2016 · Physiological genomics · 2017 · 22 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CERKL | “Genetic analysis identified six known mutations in ABCA4 (p.Gly1961Glu, p.Ala1773Val, c.5461-10T>C), RPE65 (p.Tyr249Cys, p.Gly484Asp), PDE6B (p.Lys706Ter) and DHDDS (p.Lys42Glu) and ten novel potentially pathogenic variants in CERKL (p.Met323Val fsX20), RPE65 (p.Phe252Ser, Thr454Leu fsX31), ARL6 (p.Arg121His), USH2A (p.Gly3142Ter, p.Cys3294Trp), PDE6B (p.Gln652Ter), and DHDDS (p.Thr206Ala) genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | DHDDS | “The DHDDS gene was screened for mutations in the remaining two pedigrees with Ashkenazi Jewish ancestry.” | 0.98 | hgnc_dict_v1 |
| gene | ABCA4 | “Genetic analysis identified six known mutations in ABCA4 (p.Gly1961Glu, p.Ala1773Val, c.5461-10T>C), RPE65 (p.Tyr249Cys, p.Gly484Asp), PDE6B (p.Lys706Ter) and DHDDS (p.Lys42Glu) and ten novel potentially pathogenic variants in CERKL (p.Met323Val fsX20), RPE65 (p.Phe252Ser, Thr454Leu fsX31), ARL6 (p.Arg121His), USH2A (p.Gly3142Ter, p.Cys3294Trp), PDE6B (p.Gln652Ter), and DHDDS (p.Thr206Ala) genes.” | 0.98 | hgnc_dict_v1 |