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CBL and retinitis pigmentosa are reported together in 1 article.
Gene
CBL
- HGNC
- HGNC:1541
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Retinitis pigmentosa
88articles
88mentions
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 60Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.
PMID 35887217 | PMCID PMC9318494 | DOI 10.3390/ijms23147868 · International journal of molecular sciences · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CBL | “This article describes the ocular phenotype associated with the identified Casitas B-lineage lymphoma (CBL) gene mutation and reviews the current literature.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “No variants in genes associated with retinitis pigmentosa, cone-rod dystrophy, and inherited optic neuropathy were found.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lymphoma | “Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.” | 0.98 | phenotype_alias_lexicon_v2 |