CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 CausalMutation disease CLINVAR In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia. 23823657 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 21901340 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease BEFREE These findings document that germline mutations in CBL alter development to cause a clinically variable condition that resembles NS and that possibly predisposes to malignancies. 20619386 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia. 20955399 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 CausalMutation disease CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1. 20644105 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 CausalMutation disease CLINVAR Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations. 20595524 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 CausalMutation disease CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.460 GeneticVariation disease CLINVAR Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. 19620960 2009
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 GeneticVariation disease BEFREE Genotype-phenotype correlation analysis performed on available records indicated that germline CBL mutations cause a variable phenotype characterized by a relatively high frequency of neurological features, predisposition to juvenile myelomonocytic leukemia, and low prevalence of cardiac defects, reduced growth, and cryptorchidism. 25952305 2015
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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 Biomarker disease CTD_human We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). 20694012 2010
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 Biomarker disease HPO
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.410 CausalMutation group CGI
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group BEFREE UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO. 26449661 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group BEFREE Genes significantly differentially expressed at the transcript and/or exon level in SF3B1 mutant compared with wild-type cases include genes that are involved in MDS pathogenesis (ASXL1 and CBL), iron homeostasis and mitochondrial metabolism (ALAS2, ABCB7 and SLC25A37) and RNA splicing/processing (PRPF8 and HNRNPD). 25428262 2015
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 GeneticVariation group BEFREE Recent studies are shedding light on the molecular basis of myelodysplasia and how mutations and epimutations can induce and promote this neoplastic process through aberrant transcription factor function (RUNX1, ETV6, TP53), kinase signalling (FLT3, NRAS, KIT, CBL) and epigenetic deregulation (TET2, IDH1/2, DNMT3A, EZH2, ASXL1, SF3B1, U2AF1, SRSF2, ZRSR2). 24903747 2014
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 GeneticVariation group 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
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 GeneticVariation group BEFREE The presence of CBL mutations and 11q-aUPD was an important "second hit" that could be an indicator of leukemic transformation of MDS or AML in patients with FPD/AML. 22138511 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group BEFREE Accordingly, in addition to classical oncogenic abnormalities, such as p53 abnormalities, or NRAS mutation, various molecular abnormalities, such as TET2, RPS14, or c-CBL, have been identified and/or proposed as the novel candidates for molecular basis of the development and progression of MDS. 21902648 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 GeneticVariation group BEFREE The findings suggest that C-CBL mutations play a role at least in part in a subset of MDS patients during sAML transformation. 22131879 2011