DisGeNET - a database of gene-disease associations

NOONAN SYNDROME 3, C1860991

Variant: rs397507510 ×

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:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Genomic Classification and Prognosis in Acute Myeloid Leukemia.

27276561

2016

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

27069254

2016

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.

25395418

2015

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition.

25253770

2014

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Juvenile myelomonocytic leukaemia and Noonan syndrome.

25097206

2014

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

23756559

2013

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

22465605

2012

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Prenatal features of Noonan syndrome: prevalence and prognostic value.

21744363

2011

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

20186801

2010

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

20112233

2010

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

20954246

2010

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

[Mutation analysis of PTPN11 gene in Noonan syndrome].

20931536

2010

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.

19179468

2009

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

19047918

2009

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.

17972951

2008

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

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

16990350

2007

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

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

16358218

2006

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

16804314

2006

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

15842656

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

15834506

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

15956085

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

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

15928039

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

15710330

2005

dbSNP:

rs397507510

PTPN11

0.700

CausalMutation

CLINVAR

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

14644997

2004