DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Noonan Syndrome 1 ×

Gene: PTPN11 ×

Results per page

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

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

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

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

Biomarker

GENOMICS_ENGLAND

Clinical and molecular characterization of 40 patients with Noonan syndrome.

18678287

2009

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

15389709

2004

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

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

14644997

2004

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

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

11992261

2002

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND

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

11704759

2001

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551602
Disease:	Noonan Syndrome 1

Noonan Syndrome 1

0.910

Biomarker

GENOMICS_ENGLAND