DisGeNET - a database of gene-disease associations

PTPN11, protein tyrosine phosphatase non-receptor type 11, 5781

N. diseases: 702; N. variants: 98

Disease: Leopard Syndrome 1 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918456

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918457

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918468

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918469

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918470

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

26742426

2016

dbSNP:

rs121918456

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

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

24891296

2014

dbSNP:

rs121918457

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

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

24891296

2014

dbSNP:

rs121918468

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

25173338

2014

dbSNP:

rs121918468

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

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

24891296

2014

dbSNP:

rs121918469

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

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

24891296

2014

dbSNP:

rs121918469

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

25173338

2014

dbSNP:

rs121918470

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

25173338

2014

dbSNP:

rs121918470

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

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

24891296

2014

dbSNP:

rs121918456

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

16733669

2006

dbSNP:

rs121918456

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

16679933

2006

dbSNP:

rs121918457

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

16679933

2006

dbSNP:

rs121918457

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

16733669

2006

dbSNP:

rs121918468

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

16733669

2006

dbSNP:

rs121918468

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

16679933

2006

dbSNP:

rs121918469

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

16733669

2006

dbSNP:

rs121918469

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

16679933

2006

dbSNP:

rs121918470

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

"PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

16733669

2006

dbSNP:

rs121918470

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

16679933

2006

dbSNP:

rs121918456

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

15690106

2005

dbSNP:

rs121918457

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4551484
Disease:

Leopard Syndrome 1

0.800

GeneticVariation

UNIPROT

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

15690106

2005