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  3. p(HGNC:ADNP, frag("1_719"))

p(HGNC:ADNP, frag("1_719"))

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

Entity

Name
ADNP
Namespace
hgnc
Namespace Version
20190224
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/c328ad964c08967a0417a887510b97b965a62fa5/external/hgnc-names.belns

Appears in Networks 1

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

In-Edges 1

p(HGNC:ADNP) hasVariant p(HGNC:ADNP, frag("1_719")) View Subject | View Object

Appears in Networks:

Out-Edges 1

p(HGNC:ADNP, frag("1_719")) decreases bp(GO:"walking behavior") View Subject | View Object

Interestingly, individuals with a p.Tyr719* mutation start walking at 3.5 years, significantly later than the 2 years and 2 months of the remainder of the cohort (p<0.0001, One Way Anova). PubMed:29724491

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.