BBS1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)

Synonyms:BBS1, BBS2L2, Bardet-Biedl syndrome 1, ENTREZ:582, HGNC:966, MIM:209901, NM_024649, NP_078925

Omim:OMIM:209901

Id:2dab214a-e425-58f4-98dd-d94e58aa6109

Hgnc:HGNC:966

Entrez:582

Ensembl:ENSG00000174483

Description:Bardet-Biedl syndrome 1

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

Analyze

CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BBS1's neighborhood in the knowledge graph.

Submit

Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with BBS1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using BBS1.

Submit

GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for BBS1.

Submit

Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with BBS1.

Results found

Linked to

	Label	Description
	GSE145990 1 V 0 IBRUTINIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE239844 crizotinib 6 v 9 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE199688 artemisinin 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE193351 ruxolitinib 1 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE207871 NPC knockdown S18 1 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE202434 GSE202438 talazoparib 6 v 11 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE213588 trametinib NF1 8 v 11 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE145195 PPP2R3B overexpression 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE216273 GSE216292 palbociclib 0 v 7 human up Gene Set (Entity type)	A Gene Set from LINCS

GSE145990 1 V 0 IBRUTINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE239844 crizotinib 6 v 9 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE199688 artemisinin 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE193351 ruxolitinib 1 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE207871 NPC knockdown S18 1 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE202434 GSE202438 talazoparib 6 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE213588 trametinib NF1 8 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE145195 PPP2R3B overexpression 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE216273 GSE216292 palbociclib 0 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

DISPLAY PER PAGE

CFDE Workbench

Consortium

Community

Resources

@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.