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Amyotrophic Lateral Sclerosis

Name
Amyotrophic Lateral Sclerosis
Namespace Keyword
MeSHDisease
Namespace
MeSH
Namespace Version
20170511
Namespace URL
https://arty.scai.fraunhofer.de/artifactory/bel/annotation/mesh-diseases/mesh-diseases-20170511.belanno

Sample Annotated Edges 5

p(HGNC:C9orf72, var("?")) decreases bp(GO:autophagy) View Subject | View Object

Mutations in C9ORF72 (the most prevalent risk gene for familial ALS and FTD) are likewise linked to disruption of the ALN, including interference with dynactin–dynein coordinated transport of autophagosomes along axons of motor neurons to the perikarya 82,88 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Amyotrophic Lateral Sclerosis

p(HGNC:TBK1, var("?")) decreases bp(GO:"cargo loading into vesicle") View Subject | View Object

For example, mutations in OPTN and TBK1 interfere with cargo loading 82,84,87 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Amyotrophic Lateral Sclerosis

p(HGNC:SQSTM1) association path(MESH:"Amyotrophic Lateral Sclerosis") View Subject | View Object

ALS shares many causal genes with FTD, including SQSTM1, CHMP2B, TBK1 (which encodes tank-binding kinase 1), OPTN (which encodes optineurin) and other genes associated with deficits in ALN and mitophagy. PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Amyotrophic Lateral Sclerosis

p(HGNC:OPTN, var("?")) decreases bp(GO:"cargo loading into vesicle") View Subject | View Object

For example, mutations in OPTN and TBK1 interfere with cargo loading 82,84,87 . PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Amyotrophic Lateral Sclerosis

p(HGNC:OPTN) association path(MESH:"Amyotrophic Lateral Sclerosis") View Subject | View Object

ALS shares many causal genes with FTD, including SQSTM1, CHMP2B, TBK1 (which encodes tank-binding kinase 1), OPTN (which encodes optineurin) and other genes associated with deficits in ALN and mitophagy. PubMed:30116051

Appears in Networks:
Annotations
MeSH
Dopaminergic Neurons
MeSH
Amyotrophic Lateral Sclerosis

Showing 5 of 18 edges

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.