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CFDE Workbench

GAA (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:2548, GAA, HGNC:4065, LYAG, MIM:606800, NM_000152, NM_001079803, NM_001079804, NP_000143, NP_001073271, NP_001073272, NR_134848, XM_005257193, XM_005257194, XP_005257250, XP_005257251, alpha glucosidase
Omim:OMIM:606800
Id:ENSG00000171298
Hgnc:HGNC:4065
Entrez:2548
Ensembl:ENSG00000171298
Description:alpha glucosidase
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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Data Distillery
CFDE DD-Knowledge Graph

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

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 GAA.

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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 GAA.

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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 GAA.

Results found

Linked to

 

Label

Description

 

Gene Set

T60-Adrenal Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

Gene Set

GSE171837 bortezomib 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE218097 SOX10 overexpression glial cell 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE115542 digoxin 5 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE182680 GSE182683 dexamethasone 10 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE254526 GSE254528 MI-1 Kasumi-1 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE182150 KIT LSD1 MYC inhibition 2 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE171837 0 V 1 BORTEZOMIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    T60-Adrenal Consensus

    Gene Set (Entity type)

    A Gene Set from MoTrPAC

  • Gene Set

    GSE171837 bortezomib 0 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE218097 SOX10 overexpression glial cell 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE115542 digoxin 5 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE182680 GSE182683 dexamethasone 10 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE254526 GSE254528 MI-1 Kasumi-1 0 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE182150 KIT LSD1 MYC inhibition 2 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE171837 0 V 1 BORTEZOMIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

    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
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