|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]|
|NCBI Gene ID||1055|
|Expression in Tissues and Cell Lines||
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
|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.|