Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. 19438935

2009
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND 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
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND We have confirmed SOS1 as the second major gene for NS. 17586837

2007