BBS5 (Gene)

Organism:

Homo sapiens

Synonyms:BBS5, Bardet-Biedl syndrome 5, ENTREZ:129880, HGNC:970, MIM:603650, NM_152384, NP_689597

Id:ENSG00000163093

Entrez:129880

Description:Bardet-Biedl syndrome 5

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BBS5's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with BBS5.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using BBS5.

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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 BBS5.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with BBS5.

Results found

Linked to

	Label	Description
	GSE216043 10 V 5 CISPLATIN HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE195568 palbociclib 2 v 10 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE108464 AZ-628 1 v 15 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE238213 dopamine 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 4 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE81796 0 V 2 ENZALUTAMIDE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE210476 11 V 4 RUTAECARPINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE195568 2 V 10 PALBOCICLIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE95077 amiloride 1 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE184210 0 V 2 GLUCAGON MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS

GSE216043 10 V 5 CISPLATIN HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE195568 palbociclib 2 v 10 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE108464 AZ-628 1 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE238213 dopamine 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 4 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE81796 0 V 2 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE210476 11 V 4 RUTAECARPINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE195568 2 V 10 PALBOCICLIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE95077 amiloride 1 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE184210 0 V 2 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

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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

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