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Down syndrome

Name
Down syndrome
Namespace Keyword
Disease
Namespace
Disease Ontology (DO)
Namespace Version
20170511
Namespace URL
https://arty.scai.fraunhofer.de/artifactory/bel/annotation/disease/disease-20170511.belanno

Sample Annotated Edges 5

p(HGNC:BECN1) positiveCorrelation p(HGNC:PICALM) View Subject | View Object

A highly significant correlation was found between decreased levels of PICALM and increased levels of LC3-II (p=0.0032) or decreased levels of Beclin-1 (p=0.0295) in the total brain lysates from these diseases (Fig 6D,E). PubMed:27260836

Appears in Networks:
Annotations
Disease Ontology (DO)
Alzheimer's disease
Disease Ontology (DO)
Down syndrome
Disease Ontology (DO)
Pick's disease
Disease Ontology (DO)
progressive supranuclear palsy

p(HGNC:MAP1LC3B) negativeCorrelation p(HGNC:PICALM) View Subject | View Object

A highly significant correlation was found between decreased levels of PICALM and increased levels of LC3-II (p=0.0032) or decreased levels of Beclin-1 (p=0.0295) in the total brain lysates from these diseases (Fig 6D,E). PubMed:27260836

Appears in Networks:
Annotations
Disease Ontology (DO)
Alzheimer's disease
Disease Ontology (DO)
Down syndrome
Disease Ontology (DO)
Pick's disease
Disease Ontology (DO)
progressive supranuclear palsy

p(HGNC:MAPT, pmod(Ph)) association p(HGNC:PICALM) View Subject | View Object

Phosphatidylinositol binding clathrin assembly protein, PICALM (aka CALM) assembles adaptor protein-2 (AP-2) to clathrin, thus participating in clathrin-mediated endocytosis. We have previously reported that the level of full-length PICALM is decreased in AD brains; PICALM was co-localised with phosphorylated tau in NFTs and in granulovacuolar degenerations (GVDs) in the brains of AD patients and of individuals with Down syndrome but was not observed in amyloid plaques (Ando et al., 2013). PubMed:27260836

Appears in Networks:
Annotations
Disease Ontology (DO)
Alzheimer's disease
Disease Ontology (DO)
Down syndrome

p(HGNC:PICALM) negativeCorrelation path(MESH:"Alzheimer Disease") View Subject | View Object

Phosphatidylinositol binding clathrin assembly protein, PICALM (aka CALM) assembles adaptor protein-2 (AP-2) to clathrin, thus participating in clathrin-mediated endocytosis. We have previously reported that the level of full-length PICALM is decreased in AD brains; PICALM was co-localised with phosphorylated tau in NFTs and in granulovacuolar degenerations (GVDs) in the brains of AD patients and of individuals with Down syndrome but was not observed in amyloid plaques (Ando et al., 2013). PubMed:27260836

Appears in Networks:
Annotations
Disease Ontology (DO)
Alzheimer's disease
Disease Ontology (DO)
Down syndrome

p(HGNC:PICALM) association p(HGNC:MAPT, pmod(Ph)) View Subject | View Object

Phosphatidylinositol binding clathrin assembly protein, PICALM (aka CALM) assembles adaptor protein-2 (AP-2) to clathrin, thus participating in clathrin-mediated endocytosis. We have previously reported that the level of full-length PICALM is decreased in AD brains; PICALM was co-localised with phosphorylated tau in NFTs and in granulovacuolar degenerations (GVDs) in the brains of AD patients and of individuals with Down syndrome but was not observed in amyloid plaques (Ando et al., 2013). PubMed:27260836

Appears in Networks:
Annotations
Disease Ontology (DO)
Alzheimer's disease
Disease Ontology (DO)
Down syndrome

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About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.