DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Noonan Syndrome ×

Variant: rs137852813 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

21387466

2011

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

19953625

2010

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

20683980

2010

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

19020799

2008

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

19020799

2008

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

17586837

2007

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

17586837

2007

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

17143282

2007

dbSNP:

rs137852813

SOS1

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.710

CausalMutation

CLINVAR

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

17143285

2007