DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Noonan Syndrome 4 ×

Variant: rs137852813 ×

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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:	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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

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:

rs137852813

SOS1

CUI:	C1853120
Disease:	Noonan Syndrome 4

Noonan Syndrome 4

0.800

CausalMutation

CLINVAR