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CBL - Cbl proto-oncogene
- Synonym(s) : c-Cbl, oncogene CBL2, RNF55
- Previous symbols and names : CBL2, Cas-Br-M (murine) ecotropic retroviral transforming sequence, Cbl proto-oncogene, E3 ubiquitin protein ligase
- Type : gene with protein product
- Chromosomal location : 11q23.3
- OMIM: 165360
- HGNC: 1541
- UniProtKB: P22681
- Genatlas: CBL
- GenCC: CBL
- Ensembl: ENSG00000110395
- IUPHAR-DB: -
- Reactome: P22681
- LOVD: CBL
Diseases list
- Disease-causing germline mutation(s) in Noonan syndrome
ORPHA:648 - Disease-causing germline mutation(s) in Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ORPHA:363972 - Disease-causing somatic mutation(s) in Aggressive systemic mastocytosis
ORPHA:98850 - Major susceptibility factor in Juvenile myelomonocytic leukemia
ORPHA:86834

Additional information
Patient-centred resources for this gene
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