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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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RP1 and retinal dystrophy are reported together in 1 article.
Gene
RP1
- HGNC
- HGNC:10263
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
1 records shown · first 60RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.
PMID 22317909 | DOI 10.1136/bjophthalmol-2011-301134 · The British journal of ophthalmology · 2012 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RP1 | “RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “BACKGROUND/AIM: Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinitis pigmentosa | “RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level.” | 0.95 | saudi_context_rules_v1 |