Gene table of BBS1 : Bardet-Biedl syndrome 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with BBS1OMIM linkNumber of associated genesgenes
PS209900BARDET-BIEDL SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 23ARL6, BBS7, KIF7, BBS12, BBS2, BBIP1, TMEM67, LZTFL1, BBS4, TRIM32, MKKS, CCDC28B, WDPCP, CEP290, BBS9, TTC8, BBS10, TTC21B, BBS5, IFT27, MKS1, BBS1, SDCCAG8

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Annotation of the gene BBS1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Cargo trafficking to the periciliary membraneR-HSA-56209207.31
Organelle biogenesis and maintenanceR-HSA-18522414.63
BBSome-mediated cargo-targeting to ciliumR-HSA-56209228.46
Assembly of the primary ciliumR-HSA-56178335.44
Associated GO terms for Molecular function
GO termGO IDGO IC
RNA polymerase II transcription factor bindingGO:00010855.08
protein bindingGO:00055150.46
transcription factor bindingGO:00081343.46
bindingGO:00054880.18
smoothened bindingGO:00051198.64
RNA polymerase II repressing transcription factor bindingGO:00011036.44
receptor bindingGO:00051022.43
patched bindingGO:00051137.66
repressing transcription factor bindingGO:00704915.71