1. Catalog
  2. Networks
  3. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP v1.0.0

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP 1.0.0

Compilation Biogrammar
Explore Query

Provenance

Upload
charles.hoyt@scai.fraunhofer.de at 2019-05-15 22:27:13.158170
Authors
Esther Wollert
Contact
charles.hoyt@scai.fraunhofer.de
License
CC BY 4.0
Copyright
Copyright © 2019 Fraunhofer Institute SCAI, All rights reserved.
Number Nodes
28
Number Edges
27
Number Components
1
Network Density
0.0357142857142857
Average Degree
0.964285714285714
Number Citations
1
Number BEL Errors
0

Content Statistics

Network Overlap

The node-based overlap between this network and other networks is calculated as the Szymkiewicz-Simpson coefficient of their respective nodes. Up to the top 10 are shown below.

Network Overlap
Anatabine Attenuates Tau Phosphorylation and Oligomerization in P301S Tau Transgenic Mice v1.0.0 11%
Nicotinic Acetylcholine Receptors and Nicotinic Cholinergic Mechanisms of the Central Nervous System v1.0.0 11%
Neural Systems Governed by Nicotinic Acetylcholine Receptors: Emerging Hypotheses v1.0.0 11%
Activity-dependent neuroprotective protein (ADNP) is an alcohol-responsive gene and negative regulator of alcohol consumption in female mice v1.0.0 8%
Alzheimer's Disease: Targeting the Cholinergic System v1.0.0 7%
Nicotinic Receptor Abnormalities of Alzheimer’s Disease: Therapeutic Implications v1.0.0 7%
Naturally-expressed nicotinic acetylcholine receptor subtypes v1.0.0 7%
Neuronal and Extraneuronal Nicotinic Acetylcholine Receptors. v1.0.0 7%
Tau Modifications v1.9.5 7%
Discriminative Stimulus Properties of S(−)-Nicotine: “A Drug for All Seasons v1.0.0 7%

Sample Edges

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

p(HGNC:ADNP) decreases path(MESH:"Intellectual Disability") View Subject | View Object

Fifty-two percent of the individuals in this cohort present with severe intellectual disability at the age of assessment, 36% have a moderate disability and 12% have a mild disability. PubMed:29724491

p(HGNC:ADNP) decreases path(MESH:"Developmental Disabilities") View Subject | View Object

Developmental delay is present in all individuals, with motor delay being one of the key features. PubMed:29724491

p(HGNC:ADNP) increases bp(GO:"motor behavior") View Subject | View Object

Developmental delay is present in all individuals, with motor delay being one of the key features. PubMed:29724491

p(HGNC:ADNP) decreases path(MESH:"Muscle Hypotonia") View Subject | View Object

Seventy-eight percent of the children had hypotonia, while hypertonia was present in three children. PubMed:29724491

Sample Nodes

path(MESH:Anxiety)

In-Edges: 16 | Out-Edges: 5 | Explore Neighborhood | Download JSON

path(MESH:"Autistic Disorder")

In-Edges: 8 | Out-Edges: 5 | Explore Neighborhood | Download JSON

path(MESH:Epilepsy)

In-Edges: 9 | Out-Edges: 7 | Explore Neighborhood | Download JSON

bp(GO:"sensory processing")

In-Edges: 7 | Out-Edges: 2 | Explore Neighborhood | Download JSON

path(MESH:"Mood Disorders")

In-Edges: 2 | Out-Edges: 0 | Explore Neighborhood | Download JSON

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.