rs727504426, CBL

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 21901340 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. 21901340 2012
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
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
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation 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
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. 20694012 2010
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.700 CausalMutation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.700 GeneticVariation CLINVAR Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. 19571318 2009
Malignant Ovarian Germ Cell Neoplasm
CUI: C0346180
Disease: Malignant Ovarian Germ Cell Neoplasm
0.700 GeneticVariation CLINVAR