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: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. 25952305 2015
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. 25358541 2015
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0028326
Disease:
Noonan Syndrome 		T 0.700 CausalMutation CLINVAR In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia. 23823657 2013
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: 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: C0028326
Disease:
Noonan Syndrome 		C 0.700 CausalMutation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009