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 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 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004
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 KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404 2006
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
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
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 Biomarker disease CLINGEN Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
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 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 Neurological complications of cardio-facio-cutaneous syndrome. 18039235 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 CausalMutation disease CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.770 GeneticVariation disease CLINVAR Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy. 18060073 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 CausalMutation 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 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 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 Biomarker disease CLINGEN 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 CausalMutation disease CLINVAR p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors. 18953432 2008
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 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 Biomarker disease CLINGEN 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 GermlineCausalMutation disease ORPHANET 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 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