Advanced search
Combine gene, variant, phenotype, region and year filters
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.
Knowledge-base search
About your search
BBS9 and obesity are reported together in 1 article.
Gene
BBS9
- HGNC
- HGNC:30000
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Obesity
- HPO
- HP:0001513
856articles
856mentions
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 60Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.
PMID 39211725 | PMCID PMC11361615 | DOI 10.7759/cureus.65774 · Cureus · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BBS9 | “Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “She presented with typical symptoms including obesity, polydactyly, developmental delays, and cognitive difficulties.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Bardet-Biedl syndrome | “Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In this case study, we describe an eight-year-old Saudi girl diagnosed with Bardet-Biedl syndrome (BBS), characterized by a rare homozygous mutation in the BBS9 gene.” | 0.95 | saudi_context_rules_v1 |