DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs397507520 ×

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:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.

23584145

2013

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

23756559

2013

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

22315187

2012

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

22315187

2012

dbSNP:

rs397507520

PTPN11

0.710

GeneticVariation

BEFREE

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

22315187

2012

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

21407260

2011

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

20112233

2010

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

20954246

2010

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

19737548

2009

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

19020799

2008

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

18372317

2008

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

19020799

2008

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

17361219

2007

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

17339163

2007

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

17339163

2007

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

17361219

2007

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

17020470

2006

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

17020470

2006

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

15987685

2005

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

15723289

2005

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

14644997

2004

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

14644997

2004

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

12634870

2003

dbSNP:

rs397507520

PTPN11

0.710

CausalMutation

CLINVAR

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

11992261

2002

dbSNP: