Statements (62)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gene
|
| gptkbp:associatedWith |
gptkb:Bardet-Biedl_syndrome
vision problems hearing loss neurological disorders heart defects short stature learning difficulties social difficulties scoliosis hypogonadism kidney disorders retinal disorders dental anomalies obesity-related disorders speech delay |
| gptkbp:breedingSeason |
protein-coding gene
Bardet-Biedl_syndrome_symptoms |
| gptkbp:clinicalTrials |
recommended
pathogenic mutations |
| gptkbp:code |
Bardet-Biedl_syndrome_5_protein
|
| gptkbp:community |
brain
kidney retina |
| gptkbp:culturalEvents |
BBS5_in_mice
BBS5_in_zebrafish |
| gptkbp:diseaseResistance |
multisystem involvement
ciliary dysfunction genetic heterogeneity |
| gptkbp:geneticDiversity |
2q31.1
obesity learning disabilities deletions single nucleotide polymorphisms retinal degeneration insertions copy number variations kidney abnormalities polydactyly BBS5 Bardet-Biedl_syndrome_genes |
| https://www.w3.org/2000/01/rdf-schema#label |
BBS5 gene
|
| gptkbp:is_a_route_for |
cell signaling
developmental processes ciliary_signaling |
| gptkbp:locatedIn |
2003
human chromosome 2 |
| gptkbp:regulatoryBody |
other BBS proteins
BBSome_complex |
| gptkbp:regulatoryCompliance |
cellular signaling
developmental regulation cilia_formation |
| gptkbp:research |
available
|
| gptkbp:researchAreas |
actively studied
biological functions elucidated clinical relevance established therapeutic targets identified |
| gptkbp:researchFocus |
ciliopathy
|
| gptkbp:researchInterest |
clinical trials
gene therapy genetic counseling biomarker_development |