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p(HGNC:PSEN1, var("p.Gly183Val"))

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

Entity

Name
PSEN1
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 2

Tau Protein Hyperphosphorylation and Aggregation in Alzheimer’s Disease and Other Tauopathies, and Possible Neuroprotective Strategies v1.0.0

Tau Modifications v1.9.5

Tau Modifications Sections of NESTOR

In-Edges 3

p(HGNC:PSEN1) hasVariant p(HGNC:PSEN1, var("p.Gly183Val")) View Subject | View Object

Appears in Networks:

path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:PSEN1, var("p.Gly183Val")) View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

Appears in Networks:

path(MESH:"Niemann-Pick Diseases") positiveCorrelation p(HGNC:PSEN1, var("p.Gly183Val")) View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

Appears in Networks:

Out-Edges 3

p(HGNC:PSEN1, var("p.Gly183Val")) positiveCorrelation path(MESH:"Frontotemporal Dementia") View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

Appears in Networks:

p(HGNC:PSEN1, var("p.Gly183Val")) positiveCorrelation path(MESH:"Niemann-Pick Diseases") View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

Appears in Networks:

p(HGNC:PSEN1, var("p.Gly183Val")) causesNoChange a(CHEBI:"amyloid-beta") View Subject | View Object

A PSEN1 mutation causes a Pick’s disease phenotype including FTD tau pathology without deposition of Abeta [145]; some MAPT single nucleotide polymorphisms have also been linked to sporadic Parkinson’s disease (PD, [146]); PubMed:26751493

Appears in Networks:

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.