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: 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 		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: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4551602
Disease:
Noonan Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4016301
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606706
rs267606706
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0016842
Disease:
Congenital pectus excavatum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906664
rs387906664
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4016301
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906665
rs387906665
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4016301
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C4016301
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906666
rs387906666
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397507489
rs397507489
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0026351
Disease:
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C3150803
Disease:
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0426891
Disease:
Broad thumbs 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs397517077
rs397517077
Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C1837404
Disease:
High, narrow palate 		C 0.700 GeneticVariation CLINVAR