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MTHFR (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:4524, HGNC:7436, MIM:607093, MTHFR, NM_001330358, NM_005957, NP_001317287, NP_005948, XM_005263460, XM_005263462, XM_005263463, XM_011541495, XM_011541496, XM_017001328, XM_024447198, XP_005263517, XP_005263519, XP_005263520, XP_011539797, XP_011539798, XP_016856817, XP_024302966, XR_002956640, methylenetetrahydrofolate reductase
Omim:OMIM:607093
Id:ENSG00000177000
Hgnc:HGNC:7436
Entrez:4524
Ensembl:ENSG00000177000
Description:methylenetetrahydrofolate reductase
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

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

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 MTHFR.

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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 MTHFR.

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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 MTHFR.

Results found

Linked to

 

Label

Description

 

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GSE233679 12 V 0 NICOTINAMIDE HUMAN UP

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GSE128730 3 V 5 NERATINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

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GSE213588 trametinib NF1 8 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

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GSE158834 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

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GSE147662 3 V 1 NICOTINAMIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

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GSE226249 pirfenidone HL 0 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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GSE199107 tryptophan 6 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE114883 romidepsin T cell 1 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE239844 crizotinib 6 v 9 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE144443 0 V 6 NICOTINAMIDE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233679 12 V 0 NICOTINAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE128730 3 V 5 NERATINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 0 V 3 PALMITIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE147662 3 V 1 NICOTINAMIDE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226249 pirfenidone HL 0 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE199107 tryptophan 6 v 7 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.