PTCHD1 (Gene)

Organism:

Homo sapiens

Synonyms:AUTSX4, ENTREZ:139411, HGNC:26392, MIM:300828, NM_173495, NP_775766, PTCHD1, XM_011545449, XP_011543751, patched domain containing 1

Id:ENSG00000165186

Entrez:139411

Ensembl:ENSG00000165186

Description:patched domain containing 1

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PTCHD1'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 PTCHD1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PTCHD1.

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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 PTCHD1.

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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 PTCHD1.

Results found

Linked to

	Label	Description
	GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE205976 GSE205978 CEP83 knockout TIME 1 v 4 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 0 V 4 PALMITIC ACID HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 9 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE225869 3 V 0 TEMOZOLOMIDE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE234647 1 V 3 REGORAFENIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE176008 8 V 1 AZACITIDINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE205976 GSE205978 CEP83 knockout TIME 1 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE158834 0 V 4 PALMITIC ACID HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 9 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE225869 3 V 0 TEMOZOLOMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE234647 1 V 3 REGORAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE176008 8 V 1 AZACITIDINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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Community

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@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.