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MERTK and Leber congenital amaurosis are reported together in 1 article.
Gene
MERTK
- HGNC
- HGNC:7027
5articles
5mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Leber congenital amaurosis
26articles
26mentions
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
1 records shown · first 60Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
PMID 20300561 | PMCID PMC2838735 · Molecular vision · 2010 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MERTK | “Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | Leber congenital amaurosis | “Two hundred and ninety-two probands with autosomal recessive, childhood onset, retinal dystrophies were analyzed using the Asper Ophthalmics Leber congenital amaurosis chip to screen for known MERTK mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | RGR | “The positional candidate genes protocadherin 21 (PCDH21), retinal G protein-coupled receptor (RGR), and MERTK were polymerase chain reaction (PCR) amplified and sequenced.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “PURPOSE: To report the clinical phenotype in patients with a retinal dystrophy associated with novel mutations in the MER tyrosine kinase (MERTK) gene.” | 0.98 | phenotype_alias_lexicon_v2 |