CBL - Gene browser

CBL

Cbl proto-oncogene

HCNC Approved Symbol: CBL (HGNC:1541)
Genomic Coordinates: 11:119,206,339 - 119,308,149 (11q23.3)
Synonyms: RNF55, c-Cbl, CBL2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the CBL gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

09
Patient count

Ptosis: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Global developmental delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Developmental delay: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Frequent infections: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Palatal abnormalities: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)