Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family. 25712082

2015
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN The RASopathies. 23875798

2013
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. 20133692

2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. 18456719

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome. 18651097

2008
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		0.330 Biomarker CLINGEN Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007