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: 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: 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: 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