Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR K-RasV14I recapitulates Noonan syndrome in mice. 25359213

2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients. 23885229

2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues. 21686179

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. 16987887

2006
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.900 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.110 GeneticVariation CLINVAR Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation. 22821648

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 26607044

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Genomic Classification and Prognosis in Acute Myeloid Leukemia. 27276561

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 25914815

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 25708222

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 25395418

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Pectus excavatum and carinatum. 24821303

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Behavioral profile in RASopathies. 24458522

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). 24931631

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. 25253770

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 24150203

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014