Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are diseases that are both caused by a deletion in the same region of chromosome 15, namely 15q11-q13 (exact position chr15:22805313-28390339 (GRCh37) taken from Kirov et al. 2014 and literature cited there). Due to methylation patterns however, different genes are responsible for the two syndromes. This pathway depicts the currently known downstream molecular interactions of several of the genes involved in PWS and/or AS. For this chromosomal region, also duplications are known.
The colours of the pathway sections correspond to the colours of the genes on top. Dashed lines indicate a gap between a component and the downstream pathway. A rectangle is drawn to improve the clarity of the pathway; darker colours indicate that this particular part is derived from research in other animals than humans.
A detailed description of the pathway has been published by [Ehrhart et al.](http://www.tandfonline.com/doi/abs/10.1080/15622975.2018.1439594). The published version is WP3998-94544.
Proteins on this pathway have targeted assays available via the [CPTAC Assay Portal](https://assays.cancer.gov/available_assays?wp_id=WP3998).