DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Gene: PTPN11 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918462

PTPN11

0.740

GeneticVariation

BEFREE

A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.

15539800

2004

dbSNP:

rs121918462

PTPN11

0.740

GeneticVariation

BEFREE

A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.

23446178

2013

dbSNP:

rs121918462

PTPN11

0.740

GeneticVariation

BEFREE

Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.

26286251

2015

dbSNP:

rs121918462

PTPN11

0.740

GeneticVariation

BEFREE

In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.

15723289

2005

dbSNP:

rs121918466

PTPN11

0.730

GeneticVariation

BEFREE

Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.

16166557

2005

dbSNP:

rs121918466

PTPN11

0.730

GeneticVariation

BEFREE

We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.

19017799

2008

dbSNP:

rs121918466

PTPN11

0.730

GeneticVariation

BEFREE

Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.

17641779

2007

dbSNP:

rs121918459

PTPN11

0.720

GeneticVariation

BEFREE

A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

16498234

2006

dbSNP:

rs121918459

PTPN11

0.720

GeneticVariation

BEFREE

Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.

22711529

2012

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

11704759

2001

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

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

12161469

2002

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

18562489

2008

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

BEFREE

We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432.

19927903

2009

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

BEFREE

Previous studies reported that the knock-in mouse models of the mutant D61G of SHP2 exhibited the major features of NS, which demonstrated that the mutation D61G of SHP2 could cause NS.

29125030

2018

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

15928039

2005

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

16358218

2006

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

16533526

2006

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432.

19927903

2009

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

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

17020470

2006

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

15842656

2005

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

The natural history of Noonan syndrome: a long-term follow-up study.

16990350

2007

dbSNP:

rs121918461

PTPN11

0.720

GeneticVariation

CLINVAR

Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

14644997

2004

dbSNP:

rs28933386

PTPN11

0.720

GeneticVariation

BEFREE

Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome.

29214238

2017

dbSNP:

rs28933386

PTPN11

0.720

GeneticVariation

BEFREE

One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein.

30304563

2019

dbSNP:

rs397507539

PTPN11

0.720

GeneticVariation

BEFREE

Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively.

24891296

2014