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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 60USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
PMID 22876113 | PMCID PMC3413430 · Molecular vision · 2012 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinitis pigmentosa | “PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.S243X | “RESULTS: We report the identification of a novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype and was not present in 300 ethnically matched normal controls.” | 0.95 | hgvs_regex_v1 |
| gene | USH1G | “USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “PURPOSE: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms.” | 0.98 | phenotype_alias_lexicon_v2 |