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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 CausalMutation 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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 GeneticVariation disease BEFREE 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: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 Biomarker disease CTD_human Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy. 20694012 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 CausalMutation disease CLINVAR Importantly, JMML specimens from affected children show loss of the normal CBL allele through acquired isodisomy. 20694012 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 Biomarker disease BEFREE Mutations in NF1, PTPN11, NRAS, KRAS and CBL have been reported to play a pathogenetic role in juvenile myelomonocytic leukaemia (JMML), a rare myelodyplastic/myeloproliferative neoplasm occurring in children. 20408841 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 GeneticVariation disease BEFREE CBL mutations were screened in 65 patients with JMML. 20543203 2010
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 GeneticVariation disease BEFREE Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 CausalMutation disease CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 GeneticVariation disease CLINVAR
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 Biomarker disease HPO
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GeneticVariation disease BEFREE Trio whole-exome sequencing (WES) identified a pathogenic de novo heterozygous germline CBL variant (c.1111T > C, p.Y371H), previously reported to cause CBL syndrome and implicated in development of juvenile myelomonocytic leukemia (JMML). 28414188 2017
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 25358541 2015
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder. 25283271 2015
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GeneticVariation disease UNIPROT RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR. 25178484 2014
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GeneticVariation disease BEFREE During complete remission of the AML, in the presence of normal blood counts, the hematopoiesis stably maintained the homozygous CBL mutation, which is reminiscent of the situation in children with CBL syndrome and transient juvenile myelomonocytic leukemia. 24493670 2014
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND The RASopathies. 23875798 2013
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GermlineCausalMutation disease ORPHANET Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 20543203 2010
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GeneticVariation disease UNIPROT Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 GermlineCausalMutation disease ORPHANET Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 20543203 2010
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease GENOMICS_ENGLAND 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. 19074904 2008
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 Biomarker disease CTD_human
CUI: C3150803
Disease: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.720 CausalMutation disease CLINVAR