Name Angelman syndrome chromosome region
Description Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]
NCBI Gene ID 282
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Predicted Functions View ANCR's ARCHS4 Predicted Functions.
Co-expressed Genes View ANCR's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View ANCR's ARCHS4 Predicted Functions.

Functional Associations

ANCR has 1 functional associations with biological entities spanning 1 categories (disease, phenotype or trait) extracted from 1 datasets.

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Dataset Summary
CTD Gene-Disease Associations diseases associated with ANCR gene/protein from the curated CTD Gene-Disease Associations dataset.