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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
Bardet-Biedl syndrome
24articles
24mentions
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 60Functional modelling of a novel mutation in BBS5.
PMID 24559376 | PMCID PMC3931281 | DOI 10.1186/2046-2530-3-3 · Cilia · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Bardet-Biedl syndrome | “BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known causative genes (BBS1-18).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.966dupT | “RESULTS: We describe the clinical phenotype in three Saudi siblings in whom we have identified a novel mutation in exon 12 of BBS5 (c.966dupT; p.Ala323CysfsX57).” | 0.95 | hgvs_regex_v1 |
| gene | BBS5 | “Functional modelling of a novel mutation in BBS5.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “The primary clinical features are renal abnormalities, rod-cone dystrophy, post-axial polydactyly, learning difficulties, obesity and male hypogonadism.” | 0.98 | phenotype_alias_lexicon_v2 |