DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121918461 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

24628801

2014

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

24718990

2014

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.

25383899

2014

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

22371576

2012

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

21365683

2011

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

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

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

A suggested role for mitochondria in Noonan syndrome.

19835954

2010

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

19251646

2009

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

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

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

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

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

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

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

16990350

2007

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

16533526

2006

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

17020470

2006

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

16377799

2006

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

16461457

2006

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

15928039

2005

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

15240615

2004

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

15273746

2004

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

12161469

2002

dbSNP:

rs121918461

PTPN11

CUI:	C0349639
Disease:	Juvenile Myelomonocytic Leukemia

Juvenile Myelomonocytic Leukemia

0.800

CausalMutation

CLINVAR

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

11704759

2001

dbSNP:

rs121918461

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918461

PTPN11

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

0.720

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs121918461

PTPN11

CUI:	C0028326
Disease:	Noonan Syndrome

Noonan Syndrome

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