SMCHD1 (Gene)

Organism:

Homo sapiens

Synonyms:BAMS, ENTREZ:23347, FSHD2, HGNC:29090, MIM:614982, NM_015295, NP_056110, SMCHD1, XM_011525642, XM_011525643, XM_017025684, XP_011523944, XP_011523945, XP_016881173, XR_001753172, XR_001753173, XR_001753174, XR_001753175, XR_001753176, XR_001753177, XR_001753178, XR_001753179, XR_935055, structural maintenance of chromosomes flexible hinge domain containing 1

Omim:OMIM:614982

Id:e7a433aa-b915-5693-9da3-84c4be1d90aa

Hgnc:HGNC:29090

Entrez:23347

Ensembl:ENSG00000101596

Description:structural maintenance of chromosomes flexible hinge domain containing 1

This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

Analyze

CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SMCHD1'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 SMCHD1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using SMCHD1.

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 SMCHD1.

Submit

Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with SMCHD1.

Results found

Linked to

	Label	Description
	Hypospadias Phenotype (Entity type)	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...
	GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE168473 0 V 1 ISONIAZID HUMAN 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
	GSE159678 4 V 2 CHLOROQUINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 5 V 4 PIRFENIDONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE143782 calcitriol 7 v 11 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE125782 3 V 1 GLUTAMINE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE171692 FXN knockdown 1 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE67266 7 V 3 ETOPOSIDE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS

Hypospadias

Phenotype (Entity type)

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE168473 0 V 1 ISONIAZID HUMAN 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

GSE159678 4 V 2 CHLOROQUINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 5 V 4 PIRFENIDONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE143782 calcitriol 7 v 11 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE125782 3 V 1 GLUTAMINE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE171692 FXN knockdown 1 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE67266 7 V 3 ETOPOSIDE MOUSE 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.