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 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928 2012
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 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 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
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 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 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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. 16953233 2007
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