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g(HGNC:PSEN2, var("?"))

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

Entity

Name
PSEN2
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 3

Amyloid β oligomers (AβOs) in Alzheimer’s disease v1.0.0

Clearance systems in the brain-implications for Alzheimer disease. v1.0.1

Amyloid-Binding Alcohol Dehydrogenase (ABAD) Inhibitors for the Treatment of Alzheimer’s Disease v1.0.0

In-Edges 2

g(HGNC:PSEN2) hasVariant g(HGNC:PSEN2, var("?")) View Subject | View Object

Appears in Networks:

path(MESH:"Alzheimer Disease") association g(HGNC:PSEN2, var("?")) View Subject | View Object

When characterized by autosomal dominant inheritance, EOAD is related to mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) or amyloid precursor protein (APP) genes. PubMed:26195256

Appears in Networks:

Out-Edges 3

g(HGNC:PSEN2, var("?")) increases path(MESH:"Alzheimer Disease") View Subject | View Object

However, a significant risk of AD development is related to certain genetic changes: the sporadic form of AD can be associated with the presence of apolipoprotein E (APOE) ε4 genotype (Holtzman et al. 2012; Spinney 2014), whereas the familial Alzheimer’s disease (FAD) can be linked to mutations in presenilin1 (PS1), presenilin2 (PS2), and amyloid precursor protein (APP) genes (reviewed by Hardy and Gwinn-Hardy 1998). PubMed:29196815

Appears in Networks:
Annotations
Confidence
High

g(HGNC:PSEN2, var("?")) association path(MESH:"Alzheimer Disease") View Subject | View Object

When characterized by autosomal dominant inheritance, EOAD is related to mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) or amyloid precursor protein (APP) genes. PubMed:26195256

Appears in Networks:

g(HGNC:PSEN2, var("?")) increases path(MESH:"Alzheimer Disease") View Subject | View Object

In addition, several other gene mutations have been discovered such as Presenilin-1 and Presenilin-2 mutations, which increase the risk for developing AD. 38 PubMed:30444369

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.