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p(HGNC:APP, var("?"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
APP
Namespace
hgnc
Namespace Version
20180828
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/1b20f0637c395f8aa89c2e2e342d7b704062c242/external/hgnc-symbols.belns

Appears in Networks 3

Amyloid Precursor Protein Trafficking, Processing, and Function v1.0.0

Amyloid Precursor Protein Trafficking, Processing, and Function by Thinakaran, et al., 2008

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

The Ubiquitin–Proteasome System and the Autophagic–Lysosomal System in Alzheimer Disease v1.0.0

In-Edges 5

p(HGNC:APP) hasVariant p(HGNC:APP, var("?")) View Subject | View Object

Appears in Networks:

act(a(MESH:Neurites)) negativeCorrelation p(HGNC:APP, var("?")) View Subject | View Object

Similar neuritic dystrophy eventually develops in all forms of AD and in mouse AD models where only FAD-causingmutant APP is overexpressed. PubMed:22908190

Appears in Networks:
Annotations
MeSH
Alzheimer Disease

complex(a(GO:endosome), p(HGNC:APP, var("?")), p(HGNC:NAE1)) hasComponent p(HGNC:APP, var("?")) View Subject | View Object

Appears in Networks:

path(MESH:"Alzheimer Disease") positiveCorrelation p(HGNC:APP, var("?")) View Subject | View Object

App promoter polymorphisms that increase APP expression are also associated with early-onset AD (Athan et al. 2002). PubMed:22908190

Appears in Networks:

path(MESH:"Alzheimer Disease") positiveCorrelation p(HGNC:APP, var("?")) View Subject | View Object

These findings support a longstanding hypothesis that the App gene on the trisomic copy of human chromosome 21 (HSA21) in Down syndrome (DS) is principally responsible for the invariant early development of AD in DS individuals (Margallo-Lana et al. 2004). PubMed:22908190

Appears in Networks:
Annotations
MeSH
Down Syndrome

Out-Edges 8

p(HGNC:APP, var("?")) increases path(MESH:"Alzheimer Disease") View Subject | View Object

More than 25 mutations in APP have been identified that are causative of the hereditary form of familial AD and a related condition of hereditary cerebral amyloid angiopathy. PubMed:18650430

Appears in Networks:
Annotations
Confidence
Medium

p(HGNC:APP, var("?")) increases path(MESH:"Cerebral Amyloid Angiopathy, Familial") View Subject | View Object

More than 25 mutations in APP have been identified that are causative of the hereditary form of familial AD and a related condition of hereditary cerebral amyloid angiopathy. PubMed:18650430

Appears in Networks:
Annotations
Confidence
Medium

p(HGNC:APP, var("?")) increases path(MESH:"Alzheimer Disease") View Subject | View Object

They have demonstrated that AD can be caused by mutations in the APP gene, either in the vicinity of the secretase cleavage sites, causing abnormal APP processing, or in the sequence coding for Abeta, giving rise to a peptide that is more likely to self-aggregate PubMed:14556719

Appears in Networks:

p(HGNC:APP, var("?")) increases a(HBP:"amyloid-beta aggregates") View Subject | View Object

They have demonstrated that AD can be caused by mutations in the APP gene, either in the vicinity of the secretase cleavage sites, causing abnormal APP processing, or in the sequence coding for Abeta, giving rise to a peptide that is more likely to self-aggregate PubMed:14556719

Appears in Networks:

p(HGNC:APP, var("?")) positiveCorrelation path(MESH:"Alzheimer Disease") View Subject | View Object

App promoter polymorphisms that increase APP expression are also associated with early-onset AD (Athan et al. 2002). PubMed:22908190

Appears in Networks:

p(HGNC:APP, var("?")) positiveCorrelation path(MESH:"Alzheimer Disease") View Subject | View Object

These findings support a longstanding hypothesis that the App gene on the trisomic copy of human chromosome 21 (HSA21) in Down syndrome (DS) is principally responsible for the invariant early development of AD in DS individuals (Margallo-Lana et al. 2004). PubMed:22908190

Appears in Networks:
Annotations
MeSH
Down Syndrome

p(HGNC:APP, var("?")) increases bp(GO:endocytosis) View Subject | View Object

In DS, the extra copy of App causes endocytic up-regulation and endosome pathology similar to that seen at the earliest stages of sporadic AD, but beginning even earlier PubMed:22908190

Appears in Networks:
Annotations
MeSH
Down Syndrome

p(HGNC:APP, var("?")) negativeCorrelation act(a(MESH:Neurites)) View Subject | View Object

Similar neuritic dystrophy eventually develops in all forms of AD and in mouse AD models where only FAD-causingmutant APP is overexpressed. PubMed:22908190

Appears in Networks:
Annotations
MeSH
Alzheimer Disease

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.