NSDHL (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:50814, H105E3, HGNC:13398, MIM:300275, NAD(P) dependent steroid dehydrogenase-like, NM_001129765, NM_015922, NP_001123237, NP_057006, NSDHL, SDR31E1, XAP104, XM_011531178, XM_017029564, XP_011529480, XP_016885053

Omim:OMIM:300275

Id:ENSG00000147383

Hgnc:HGNC:13398

Entrez:50814

Ensembl:ENSG00000147383

Description:NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [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 NSDHL'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 NSDHL.

CFDE Gene-Centric Appyter

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

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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 NSDHL.

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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 NSDHL.

Results found

Linked to

	Label	Description
	GSE102505 5 V 0 TUNICAMYCIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 pirfenidone HL 2 v 1 human up 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
	GSE208634 1 V 2 DOXYCYCLINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE158834 0 V 3 PALMITIC ACID HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE120370 0 V 6 THROMBIN MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE48812 sulforaphane 4 v 10 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE168401 2 V 0 HARMINE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE146687 2 V 5 ERIBULIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE184210 0 V 1 GLUCAGON MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 pirfenidone HL 2 v 1 human up

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

GSE208634 1 V 2 DOXYCYCLINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE158834 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE120370 0 V 6 THROMBIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE48812 sulforaphane 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE146687 2 V 5 ERIBULIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE184210 0 V 1 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

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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.