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Angelman syndrome

Disease ID:69
Name:Angelman syndrome
Associated with:2 targets
Database Links
Disease Ontology: DOID:1932
OMIM: 105830


GABAA receptor β3 subunit
Role:  Deletion of the GABR3 gene due to maternal deficiency of chromosome 15q11-13 is associated with the pathogenesis of Angelman syndrome.
References:  1
cyclin-dependent kinase like 5


No ligand related data available for Angelman syndrome


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1. Wagstaff J, Knoll JH, Fleming J, Kirkness EF, Martin-Gallardo A, Greenberg F, Graham JM, Menninger J, Ward D, Venter JC. (1991) Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet, 49 (2): 330-7. [PMID:1714232]