Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE The causal mutation was located by positional cloning in the c-cbl gene, the human ortholog of which, c-CBL, is found frequently mutated in myeloproliferative neoplasms (MPN) or acute leukemia. 26104663

2015

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE Our data suggest that the loss of SH2B3 inhibitory function conferred by the PH domain mutations is mild and may collaborate with JAK2 V617F and CBL mutations in order to promote either the development or the progression of myeloproliferative neoplasms. 23590807

2013

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 Biomarker BEFREE CBL(mut) were more frequent in myelodysplastic/myeloproliferative neoplasms than myeloproliferative neoplasms (51 of 328, 15.5% vs. 12 of 291, 4.1%; P<0.001). 22733026

2012

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 Biomarker BEFREE TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. 21904853

2012

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE In order to determine the frequency of CBL mutations in these diseases, we studied different regions of all CBL family genes (CBL, CBLB and CBLC) in a selected group of patients with myeloproliferative neoplasms. 22315494

2012

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing. 23010802

2012

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE CBL mutations were identified in suspected chronic myelomonocytic leukemia (13.9%), primary myelofibrosis (8.0%), and not further classifiable myeloproliferative neoplasm (7.0%). 22511494

2012

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 Biomarker BEFREE Mutant Cbl proteins as oncogenic drivers in myeloproliferative disorders. 21422499

2011

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 Biomarker BEFREE A loss-of-function mutation of TET2, CBL and CEBPA has been implicated in the pathogenesis or leukaemic transformation of myeloproliferative neoplasm. 20671051

2010

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.100 GeneticVariation BEFREE Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. 19387008

2009