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: rs4938642
rs4938642
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs4938642
rs4938642
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs267606704
rs267606704
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267606704
rs267606704
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs267606705
rs267606705
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606705
rs267606705
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs267606707
rs267606707
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606707
rs267606707
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs267606708
rs267606708
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs267606708
rs267606708
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.710 GeneticVariation BEFREE The penetrance of the CBL Y371C mutation was 30% for JMML and 40% for all leukemia. 25939664 2015
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.710 GeneticVariation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		C 0.710 CausalMutation CLINVAR
dbSNP: rs7108857
rs7108857
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0032181
Disease:
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1047417
rs1047417
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1047417
rs1047417
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs11217184
rs11217184
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12786104
rs12786104
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2276083
rs2276083
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2511856
rs2511856
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. 28589114 2017
dbSNP: rs397517076
rs397517076
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. 28589114 2017
dbSNP: rs4936467
rs4936467
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4938638
rs4938638
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4938642
rs4938642
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017