DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs121918461 ×

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:

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

CausalMutation

CLINVAR

Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.

24718990

2014

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

24628801

2014

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor.

25383899

2014

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2.

22371576

2012

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.

21365683

2011

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

A suggested role for mitochondria in Noonan syndrome.

19835954

2010

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.

20651068

2010

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.

19008228

2009

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance.

19251646

2009

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

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

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

CausalMutation

CLINVAR

Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.

18378677

2008

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

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

CausalMutation

CLINVAR

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

16990350

2007

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

CausalMutation

CLINVAR

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

16533526

2006

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

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

16377799

2006

dbSNP:

rs121918461

PTPN11

0.720

CausalMutation

CLINVAR

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

17020470

2006

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

CausalMutation

CLINVAR

Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.

16461457

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

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

17020470

2006