1. Catalog
  2. Nodes
  3. path(MESH:"Autism Spectrum Disorder")

path(MESH:"Autism Spectrum Disorder")

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

Entity

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

Appears in Networks 2

Tau Modifications v1.9.5

Tau Modifications Sections of NESTOR

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP v1.0.0

In-Edges 3

p(HBP:"NP_001387.2:p.Arg205del") positiveCorrelation path(MESH:"Autism Spectrum Disorder") View Subject | View Object

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants. PubMed:28167836

Appears in Networks:

p(HBP:"NP_001387.2:p.Glu239del") positiveCorrelation path(MESH:"Autism Spectrum Disorder") View Subject | View Object

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants. PubMed:28167836

Appears in Networks:

p(HGNC:ADNP) decreases path(MESH:"Autism Spectrum Disorder") View Subject | View Object

Ninety-three percent of the individuals present with autistic features (Fig. 3-B). Sixty-seven percent of them have been reported to have a clinical diagnosis of ASD. PubMed:29724491

Appears in Networks:

Out-Edges 2

path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Glu239del") View Subject | View Object

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants. PubMed:28167836

Appears in Networks:

path(MESH:"Autism Spectrum Disorder") positiveCorrelation p(HBP:"NP_001387.2:p.Arg205del") View Subject | View Object

We conclude that the Dyrk1a dosage is critical for proper neurite and axonal outgrowth and that the two nonsense mutations, R205X and E239X, are loss-of-function mutants. PubMed:28167836

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.