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Entity

Name
Cystic Fibrosis
Namespace
MeSH
Namespace Version
20181007
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/01c9daa61012b37dd0a1bc962521ba51a15b38f1/external/mesh-names.belns

Appears in Networks 2

In-Edges 3

p(HGNC:CFTR, var("p.Phe508del")) increases path(MESH:"Cystic Fibrosis") View Subject | View Object

This case may be analogous to the loss of function observed during the rapid degradation of mutated ΔF508 Cystic Fibrosis Transmembrane conductance Regulator (CFTR), which is also an active protein, and that the rapid degradation of which contributes to the pathogenesis of cystic fibrosis (CF) in patients carrying the mutation PubMed:14556719

p(HGNC:AHSA1) association path(MESH:"Cystic Fibrosis") View Subject | View Object

Previous studies have also implicated Aha1 for a role in cystic fibrosis. PubMed:29311797

p(HGNC:STUB1) association path(MESH:"Cystic Fibrosis") View Subject | View Object

CHIP has been linked to several neurodegenerative disorders including Huntington’s disease, Parkinson’s disease and AD as well as other diseases such as cystic fibrosis and cancer (Dickey et al., 2007b; Edkins, 2015). PubMed:29311797

Out-Edges 2

path(MESH:"Cystic Fibrosis") association p(HGNC:STUB1) View Subject | View Object

CHIP has been linked to several neurodegenerative disorders including Huntington’s disease, Parkinson’s disease and AD as well as other diseases such as cystic fibrosis and cancer (Dickey et al., 2007b; Edkins, 2015). PubMed:29311797

path(MESH:"Cystic Fibrosis") association p(HGNC:AHSA1) View Subject | View Object

Previous studies have also implicated Aha1 for a role in cystic fibrosis. PubMed:29311797

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.