Bardet-Biedl syndrome 9

Summary
Gene Symbol
  • BBS9
Organism
Homo sapiens (human)
NCBI Gene
27241
PubChem
27241
Alliance of Genome Resources
JoGo
BBS9
TogoVar
BBS9
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Bardet-Biedl syndrome
  • Cell membrane
  • Chromosomal rearrangement
  • Cilium
  • Cilium biogenesis/degradation
  • Coiled coil
  • Cytoskeleton
  • Disease variant
  • Intellectual disability
  • Obesity
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Vision
Proteins
Displaying all 7 entries
UniProt Protein Name
A0A5F9ZHE7
A0A090N7W2
A0A5F9ZH14
A0A5F9ZH74
Q3SYG4
  • Bardet-Biedl syndrome 9 protein
  • Parathyroid hormone-responsive B1 gene protein
A0A5F9ZGY2
A0A090N8P4
Gene Ontology (GO)
Displaying entries 1 - 5 of 6 in total
GO Term Evidence Code PMID
visual perception
protein transport
fat cell differentiation
cilium assembly
cilium assembly
GO Hierarchy
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0110131 Bardet-Biedl syndrome 9
DOID:1935 Bardet-Biedl syndrome
DOID:2340 craniosynostosis
DOID:5426 primary ovarian insufficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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