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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
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 60Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.
PMID 38155680 | PMCID PMC10752272 | DOI 10.4103/sjopt.sjopt_129_22 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | retinal dystrophy | “Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | C.848dupA | “As a result, three distinct pathogenic ALMS1 mutations were identified; the first one is a nonsense mutation (c.8158C>T: p.R2720X) which has recently been identified in a Chinese patient, while the other two are known to have a founder effect in the Saudi population (the frameshift: C.848dupA: p.E283fs and the splicing: C.11870-2A>T: p.?).” | 0.95 | hgvs_regex_v1 |
| gene | ALMS1 | “Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alstrom syndrome | “Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |