CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0454644
Disease:
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0239676
Disease:
High forehead 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0431478
Disease:
Posteriorly rotated ear 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0424731
Disease:
Single transverse palmar crease 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0426848
Disease:
Sacral dimple 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0346180
Disease:
Malignant Ovarian Germ Cell Neoplasm 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs727504640
rs727504640
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs267606708
rs267606708
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE DNA sequencing of AML bone marrow revealed a case with a c-Cbl point mutation (Cbl-R420Q). 17446348 2007
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		G 0.700 CausalMutation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 GeneticVariation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
dbSNP: rs727504504
rs727504504
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. 19620960 2009
dbSNP: rs1301481068
rs1301481068
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE Using select c-CBL somatic mutations such as S80N/H94Y, Q249E and W802* (obtained from Caucasian, Taiwanese and African-American samples, respectively) transfected in NSCLC cell lines, there was increased cell viability and cell motility. 20126411 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 20543203 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. 20543203 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation 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
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
dbSNP: rs727504504
rs727504504
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 GeneticVariation CLINVAR Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. 20619386 2010
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE We identified four novel CBL mutations, including a point mutation (Y371H) and a putative splice site mutation in AML specimens. 20622007 2010
dbSNP: rs727504504
rs727504504
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		A 0.700 GeneticVariation 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
dbSNP: rs267606705
rs267606705
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0280449
Disease:
secondary acute myeloid leukemia 		0.010 GeneticVariation BEFREE In particular the detection and quantification of a copy-neutral loss of heterozygosity region located in chromosome 11q guided the search for point mutations in the CBL gene, thus allowing the escription of the novel missense mutation K382E and the demonstration of its selection during progression to secondary AML. 20674974 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010