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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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Phenotype
Leber congenital amaurosis
26articles
26mentions
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 60Exome capture sequencing identifies a novel mutation in BBS4.
PMID 22219648 | PMCID PMC3250376 · Molecular vision · 2011 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Leber congenital amaurosis | “PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.E85Q | “This missense mutation in the fifth exon (c.253G>C;p.E85Q) of BBS4 is likely a disease-causing mutation as it segregates with the disease.” | 0.95 | hgvs_regex_v1 |
| gene | BBS4 | “Exome capture sequencing identifies a novel mutation in BBS4.” | 0.98 | hgnc_dict_v1 |
| phenotype | Bardet-Biedl syndrome | “RESULTS: A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |