rs137852814, SOS1

N. diseases: 16
Disease: Noonan Syndrome 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466 2011
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. 20673819 2011
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176 2010
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980 2010
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625 2010
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 19438935 2009
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799 2008
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282 2007
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285 2007
Noonan Syndrome 4
CUI: C1853120
Disease: Noonan Syndrome 4
0.800 CausalMutation CLINVAR