DisGeNET - a database of gene-disease associations

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Disease: Noonan Syndrome 1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

28957739

2018

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

30266093

2018

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

28650561

2017

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

28681392

2017

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

28483241

2017

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

28650561

2017

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

28074573

2017

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

27521173

2016

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.

27659786

2016

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

27238887

2016

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

26785492

2015

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

25912702

2015

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

GeneticVariation

UNIPROT

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

24891296

2014

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

24767283

2014

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

24803665

2014

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

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

24628801

2014

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

The RASopathies.

23875798

2013

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

23726368

2013

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.

22058153

2012

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Lethal presentation of neurofibromatosis and Noonan syndrome.

21567923

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

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

21407260

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.

21677813

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.

21803945

2011

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

CausalMutation

CLINVAR

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

20308328

2010