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CFDE Workbench

NEFH (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:CMT2CC, ENTREZ:4744, HGNC:7737, MIM:162230, NEFH, NFH, NM_021076, NP_066554, XM_011530200, XP_011528502, neurofilament heavy chain
Omim:OMIM:162230
Id:ENSG00000100285
Hgnc:HGNC:7737
Entrez:4744
Ensembl:ENSG00000100285
Description:neurofilament heavy chain
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

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Data Distillery
CFDE DD-Knowledge Graph

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

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

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

Gene Partnership Appyter
CFDE Gene-Centric Appyter

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

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Gene and Drug Landing Page Aggregator
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 NEFH.

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Playbook Workflow Builder
Playbook Workflow Builder

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

Results found

Linked to

 

Label

Description

 

Gene Set

GSE142588 cinobufagin 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Phenotype

Ataxia

Phenotype (Entity type)

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

Gene Set

GSE135514 dasatinib 8 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE77108 saha 4 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 10 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE117805 A-66 3 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE202434 GSE202438 talazoparib 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE74251 decitabine MCF-7 2 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE117805 A-66 0 v 5 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE142588 2 V 1 CINOBUFAGIN HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE142588 cinobufagin 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

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

  • Gene Set

    GSE135514 dasatinib 8 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE77108 saha 4 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 10 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE117805 A-66 3 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE202434 GSE202438 talazoparib 4 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE74251 decitabine MCF-7 2 v 3 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE117805 A-66 0 v 5 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE142588 2 V 1 CINOBUFAGIN HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    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.