Name cat eye syndrome chromosome region
Description Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]
Synonyms CES
NCBI Gene ID 1055
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Predicted Functions View CECR's ARCHS4 Predicted Functions.
Co-expressed Genes View CECR's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View CECR's ARCHS4 Predicted Functions.

Functional Associations

CECR has 5 functional associations with biological entities spanning 1 categories (disease, phenotype or trait) extracted from 2 datasets.

Click the + buttons to view associations for CECR from the datasets below.

If available, associations are ranked by standardized value

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