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 		0.680 Biomarker disease BEFREE RNA-sequencing reveals genes with abnormal expression in RAF1 mutant iPSC-derived cardiomyocytes and identifies subsets of genes dysregulated by aberrant MEK1/2 or ERK5 pathways that could contribute to the NS-associated HCM. 31163979 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 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 		0.680 Biomarker disease CLINGEN Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. 27862862 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 GeneticVariation disease BEFREE Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. 27862862 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker disease CLINGEN Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. 25049390 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker disease BEFREE Expression of the mutant RASA2, MAP2K1, or RIT1 alleles in heterologous cells increased RAS-ERK pathway activation, supporting a causative role in NS pathogenesis. 25049390 2014
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 Biomarker disease CLINGEN Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 CausalMutation disease CLINVAR Oncogenic MAP2K1 mutations in human epithelial tumors. 22327936 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 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 		0.680 Biomarker disease BEFREE In conclusion, the present results exclude copy number variation of PTPN11, SOS1, RAF1, KRAS, BRAF, MEK1 and MEK2 as a common pathogenic mechanism of NS. 20302979 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 CausalMutation disease CLINVAR MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas. 19411838 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 CausalMutation 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 		0.680 Biomarker disease CLINGEN 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 		0.680 GeneticVariation disease LHGDN 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 		0.680 Biomarker disease CTD_human Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. 17703371 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 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 		0.680 GeneticVariation disease BEFREE Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2. 17603483 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.680 GeneticVariation disease CLINVAR