CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: Noonan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 GeneticVariation CLINVAR Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 21901340 2012
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 GeneticVariation 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
dbSNP: rs727504426
rs727504426
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		G 0.700 GeneticVariation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
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