CECR (cat eye syndrome chromosome region)

Gene
Gene Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1055
Gene name Gene Name - the full gene name approved by the HGNC.
Cat eye syndrome chromosome region
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CECR
Synonyms (NCBI Gene) Gene synonyms aliases
CES
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22pter-q11
Summary Summary of gene provided in NCBI Entrez Gene.
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 o
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Associated diseases
MIM HGNC e!Ensembl
115470 1838 N/A
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 11693792
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Associate 28257192