Prader-Willi syndrome

Disease ID:771
Name:Prader-Willi syndrome
Associated with:1 target
Database Links
Disease Ontology: DOID:11983
OMIM: 176270


GABAA receptor β3 subunit
Role:  Deletion of the GABR3 gene due to paternal deficiency of chromosome 15q11-13 is associated with the pathogenesis of Prader-Willi syndrome.
References:  1


No ligand related data available for Prader-Willi 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]