Disease: Noonan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease BEFREE Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome). 21871821 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease BEFREE We thus suggest involvement of BRAF in the pathogenesis of NS also. 18456719 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease BEFREE We screened GCTBs for mutations in PTPN11 and BRAF to determine whether GCTBs develop through alterations of genes involved in Noonan syndrome.MSC were isolated from 10 GCTBs. 22725657 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. 19376813 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease BEFREE PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease CLINGEN PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively. 21784453 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway. 22892241 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease BEFREE Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants. 22826437 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease BEFREE Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. 31125963 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease CLINVAR Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma. 12692057 2003
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease 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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported in patients with CFC. 18456719 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease BEFREE TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. 29084544 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. 23026937 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease GENOMICS_ENGLAND Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577 2007