DisGeNET - a database of gene-disease associations

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Disease: Noonan Syndrome 1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

GeneticVariation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

GeneticVariation

CLINVAR

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	5894
Gene Symbol:	RAF1

RAF1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	4893
Gene Symbol:	NRAS

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

CausalMutation

CLINVAR

Entrez Id:	6016
Gene Symbol:	RIT1

RIT1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.100

CausalMutation

CLINVAR

Entrez Id:	867
Gene Symbol:	CBL

CBL

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.100

CausalMutation

CLINVAR

Entrez Id:	22800
Gene Symbol:	RRAS2

RRAS2

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.100

CausalMutation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

15889278

2005

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

15889278

2005

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

24891296

2014

Entrez Id:	4893
Gene Symbol:	NRAS

NRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

Biomarker

CTD_human

A restricted spectrum of NRAS mutations causes Noonan syndrome.

19966803

2010

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.

15725481

2005

Entrez Id:	6655
Gene Symbol:	SOS2

SOS2

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.100

GeneticVariation

CLINVAR

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

26173643

2015

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

23726368

2013

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

18331608

2008

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

21407260

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

CTD_human

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

17703371

2007

Entrez Id:	5604
Gene Symbol:	MAP2K1

MAP2K1

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

Biomarker

CTD_human

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

17703371

2007

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

Biomarker

CTD_human

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

17703371

2007

Entrez Id:	3265
Gene Symbol:	HRAS

HRAS

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.400

Biomarker

CTD_human

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

17703371

2007