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
0.710 GeneticVariation BEFREE In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML. 22753870 2012
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.710 CausalMutation CLINVAR A restricted spectrum of NRAS mutations causes Noonan syndrome. 19966803 2010
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.710 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918 2009
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.710 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584 2007
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.710 CausalMutation CLINVAR Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. 16518851 2006
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.710 CausalMutation CLINVAR Juvenile myelomonocytic leukemia and Noonan syndrome. 10598665 2000