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

CausalMutation

CLINVAR

Lethal presentation of neurofibromatosis and Noonan syndrome.

21567923

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

The RASopathies.

23875798

2013

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

12717436

2003

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

SHP-2 and myeloid malignancies.

14676626

2004

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:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

Clinical and molecular characterization of 40 patients with Noonan syndrome.

18678287

2009

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

17546245

2007

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

The role of Shp2 (PTPN11) in cancer.

17227708

2007

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

12960218

2003

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

16377799

2006

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

BEFREE

We surveyed 16 subjects with the clinical diagnosis of Noonan Syndrome (NS1) from 12 families and their relevant family members for mutations in PTPN11/SHP2 using direct DNA sequencing.

12325025

2002

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

MGD

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

15273746

2004

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.

22058153

2012

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.

18454468

2008

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

24767283

2014

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

11992261

2002

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

16399795

2006

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

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

20308328

2010

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

17339163

2007

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

12161469

2002

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

26785492

2015

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

15948193

2005

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

17020470

2006

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.

15385933

2004