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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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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 60A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
PMID 29892959 | DOI 10.1007/s13258-018-0657-5 · Genes & genomics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinitis pigmentosa | “A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ser201Phe | “This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene.” | 0.95 | hgvs_regex_v1 |
| gene | RDH5 | “A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinal dystrophy | “Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration.” | 0.93 | phenotype_alias_lexicon_v2 |