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 		1.000 CausalMutation disease CLINVAR 14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity. 12077328 2002
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. 19953625 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. 20461756 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known. 26286251 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR A GaN bulk crystal with improved structural quality grown by the ammonothermal method. 17603489 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. 26266034 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with mutations identified in PTPN11 (n = 90), SOS1 (n = 14), RAF1 (n = 10), KRAS (n = 8), BRAF (n = 11), and SHOC2 (n = 4) genes. 22887833 2012
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Atypical forms of NSML could be associated with NS with RAF1 or NRAS mutations. 30417923 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CTD_human Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease LHGDN Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Cells transfected with constructs containing Noonan syndrome-associated RAF1 mutations showed increased in vitro kinase and ERK activation, and zebrafish embryos with morpholino knockdown of raf1 demonstrated the need for raf1 for the development of normal myocardial structure and function. 17603482 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome. 28548091 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581 2018
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Common variants in WFS1 confer risk of type 2 diabetes. 17603484 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease CLINGEN Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. 21440552 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Downgrading of arts-centered education in state schools. 1760348 1992
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR External ear anomalies and hearing impairment in Noonan Syndrome. 25862627 2015
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Gain-of-function mutations in the PTPN11, KRAS, SOS1, and RAF1 genes that are components of the RAS/MEPK signaling pathway are identified in about 70-85% of individuals with Noonan syndrome. 18348260 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). 31219622 2019
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker disease BEFREE Germline mutations in genes encoding small GTPases of the RAS family (KRAS and NRAS), modulators of RAS function (PTPN11, SOS1 and SHOC2) or downstream signal transducers (RAF1) are causative for NS. 20673819 2011
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease BEFREE Heterozygous germline mutations in CRAF result in Noonan syndrome, which is characterized by neurocognitive impairment that may involve hippocampal physiology. 29590115 2018