CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Hematologic Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.410 GeneticVariation group CLINVAR CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN. 23696637 2013
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.410 GeneticVariation group BEFREE We analyzed 77 samples from hematologic malignancies, identifying a somatic mutation in CBL (p.C381R) in one patient with T-ALL that was associated with a uniparental disomy at the CBL locus and a germline heterozygous mutation in one patient with JMML. 22591685 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.410 CausalMutation group CGI