Source: CLINVAR ×
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 Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. 20461756 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. 20305546 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR 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 CLINVAR Allosteric gating of Son of sevenless activity by the histone domain. 20133694 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. 19438935 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. 18854871 2009
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR The aim of this study was to assess the correlation between phenotype and genotype by molecular analysis of the PTPN11, SOS1, KRAS, and RAF1 genes in 59 Korean patients with NS. 19020799 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome. 18651097 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR An integrated genomic analysis of human glioblastoma multiforme. 18772396 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. 18456719 2008
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR Our results identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activating GEF mutations associated with human disease and providing new insights into RAS-GEF regulation. 17143285 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR We have confirmed SOS1 as the second major gene for NS. 17586837 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR The phenotype associated with SOS1 defects lies within the Noonan syndrome spectrum but is distinctive, with a high prevalence of ectodermal abnormalities but generally normal development and linear growth. 17143282 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR The phenotype associated with SOS1 defects lies within the Noonan syndrome spectrum but is distinctive, with a high prevalence of ectodermal abnormalities but generally normal development and linear growth. 17143282 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR We have confirmed SOS1 as the second major gene for NS. 17586837 2007
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation disease CLINVAR Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange. 11333268 2001
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation disease CLINVAR [Observations on cancer metastasis from an unknown primary location]. 1758637 1991
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.900 CausalMutation disease CLINVAR
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.900 GeneticVariation disease CLINVAR