Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Juvenile Myelomonocytic Leukemia
|
0.820 | GeneticVariation | BEFREE | We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy. | 31250550 | 2019 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | 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
|
0.820 | CausalMutation | CLINVAR | KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. | 21169357 | 2011 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. | 19358724 | 2009 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. | 19358724 | 2009 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | 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
|
0.820 | 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
|
0.820 | CausalMutation | CLINVAR | Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. | 17910045 | 2008 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | GeneticVariation | UNIPROT | Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | 17332249 | 2007 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | 17332249 | 2007 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. | 17704260 | 2007 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. | 17332249 | 2007 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. | 15696205 | 2005 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. | 15696205 | 2005 | |||||
Juvenile Myelomonocytic Leukemia
|
0.820 | CausalMutation | CLINVAR | Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | 15842656 | 2005 |