DisGeNET - a database of gene-disease associations

Noonan Syndrome, C0028326

Variant: rs397507505 ×

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:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.

25914815

2015

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.

24150203

2014

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.

23624134

2013

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

23832011

2013

dbSNP:

rs397507505

PTPN11

0.710

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:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

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

21407260

2011

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

RASopathies: Clinical Diagnosis in the First Year of Life.

22190897

2011

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

20030748

2010

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Genotype differences in cognitive functioning in Noonan syndrome.

19077116

2009

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature.

19125092

2009

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Clinical and molecular characterization of 40 patients with Noonan syndrome.

18678287

2009

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Noonan syndrome: relationships between genotype, growth, and growth factors.

16263833

2006

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

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

16804314

2006

dbSNP:

rs397507505

PTPN11

0.710

GeneticVariation

BEFREE

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

16804314

2006

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

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

16358218

2006

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

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

15956085

2005

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlations in Noonan syndrome.

15001945

2004

dbSNP:

rs397507505

PTPN11

0.710

CausalMutation

CLINVAR

Genotype-phenotype correlations in Noonan syndrome.

15001945

2004

dbSNP:

rs397507505

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