DES (Gene)

Organism:

Homo sapiens

Synonyms:CDCD3, CSM1, CSM2, DES, ENTREZ:1674, HGNC:2770, LGMD1D, LGMD1E, LGMD2R, MIM:125660, NM_001382708, NM_001382709, NM_001382710, NM_001382711, NM_001382712, NM_001382713, NM_001927, NP_001369637, NP_001369638, NP_001369639, NP_001369640, NP_001369641, NP_001369642, NP_001918, desmin

Omim:OMIM:125660

Id:ENSG00000175084

Hgnc:HGNC:2770

Entrez:1674

Ensembl:ENSG00000175084

Description:desmin

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Analyze

CFDE DD-Knowledge Graph

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

CFDE Gene-Centric Appyter

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

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 DES.

Submit

Playbook Workflow Builder

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

Results found

Linked to

	Label	Description
	Ataxia Phenotype (Entity type)	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...
	GSE202434 GSE202438 talazoparib 9 v 5 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE202434 GSE202438 talazoparib 10 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE233679 nicotinamide 6 v 10 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE125862 dexamethasone T3 2Cr NKX2.1 Pt 3 2 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	Sensorineural hearing impairment Phenotype (Entity type)	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...
	GSE234514 GSE234516 palbociclib 2 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE202434 GSE202438 talazoparib 9 v 11 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 0 v 5 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE144796 3 V 0 LINAGLIPTIN MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

GSE202434 GSE202438 talazoparib 9 v 5 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE202434 GSE202438 talazoparib 10 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE233679 nicotinamide 6 v 10 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE125862 dexamethasone T3 2Cr NKX2.1 Pt 3 2 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Sensorineural hearing impairment

Phenotype (Entity type)

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlea...

GSE234514 GSE234516 palbociclib 2 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE202434 GSE202438 talazoparib 9 v 11 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 0 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE144796 3 V 0 LINAGLIPTIN 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.