Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
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
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
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
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
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
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 GeneticVariation UNIPROT Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 GeneticVariation UNIPROT Noonan syndrome: clinical features, diagnosis, and management guidelines. 20876176

2010
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 GeneticVariation UNIPROT SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 19438935

2009
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
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
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 GeneticVariation UNIPROT Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		0.800 GeneticVariation UNIPROT Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 17143285

2007
dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		G 0.800 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. 20305546

2010
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411

2009
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		G 0.700 CausalMutation CLINVAR Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 17143282

2007
dbSNP: rs267607079
rs267607079
SOS1
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C4551558
Disease: Fibromatosis, Gingival, Type 1
Fibromatosis, Gingival, Type 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267607079
rs267607079
SOS1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		G 0.700 CausalMutation CLINVAR