DisGeNET - a database of gene-disease associations

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

N. diseases: 702; N. variants: 98

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:

rs1057517917

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0028326
Disease:

Noonan Syndrome

0.020

GeneticVariation

BEFREE

Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.

22711529

2012

dbSNP:

rs1057517917

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0028326
Disease:

Noonan Syndrome

0.020

GeneticVariation

BEFREE

A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

16498234

2006

dbSNP:

rs1057517917

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0013336
Disease:

Dwarfism

0.010

GeneticVariation

BEFREE

A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

16498234

2006

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1704436
Disease:

Peripheral Arterial Diseases

0.700

GeneticVariation

GWASCAT

Genome-wide association study of peripheral artery disease in the Million Veteran Program.

31285632

2019

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASDB

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

19820697

2009

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0036421
Disease:

Systemic Scleroderma

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

30573655

2019

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0200665
Disease:

Platelet mean volume determination (procedure)

0.700

GeneticVariation

GWASDB

A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

22423221

2012

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

27618448

2016

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0032181
Disease:

Platelet Count measurement

0.700

GeneticVariation

GWASCAT

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

19820697

2009

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0027121
Disease:

Myositis

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

30573655

2019

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

30573655

2019

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0024141
Disease:

Lupus Erythematosus, Systemic

0.700

GeneticVariation

GWASCAT

Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

30573655

2019

dbSNP:

rs11066301

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C1956346
Disease:

Coronary Artery Disease

0.010

GeneticVariation

BEFREE

Our results showed that the polymorphisms rs12526453 and rs11066301 are significantly associated with the CAD risk in multiple populations.

25123136

2014

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.710

GeneticVariation

GWASDB

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

23297363

2013

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0039685
Disease:

Tetralogy of Fallot

0.710

GeneticVariation

BEFREE

Genotype at rs11066320 was associated with a per-allele odds ratio of 1.34 (95% confidence interval [CI], 1.19 to 1.52; P=2.9 × 10(-6)) in the total cohort of TOF cases and controls; this remained highly significant after Bonferroni correction for 207 analyses (corrected P=0.00061).

22503907

2012

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASDB

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

19862010

2009

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0020676
Disease:

Hypothyroidism

0.700

GeneticVariation

GWASDB

Novel associations for hypothyroidism include known autoimmune risk loci.

22493691

2012

dbSNP:

rs11066320

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C4528257
Disease:

Corpuscular Hemoglobin Concentration Mean

0.700

GeneticVariation

GWASDB

Seventy-five genetic loci influencing the human red blood cell.

23222517

2012

dbSNP:

rs11066325

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.

31006500

2020

dbSNP:

rs117162013

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1214031315

Entrez Id:	5781;6128
Gene Symbol:	PTPN11;RPL6

PTPN11;RPL6

CUI:	C0280781
Disease:

Adult Pilocytic Astrocytoma

0.010

GeneticVariation

BEFREE

We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.

17712732

2007

dbSNP:

rs1214031315

Entrez Id:	5781;6128
Gene Symbol:	PTPN11;RPL6

PTPN11;RPL6

CUI:	C1332995
Disease:

Childhood Pilocytic Astrocytoma

0.010

GeneticVariation

BEFREE

We screened 25 WHO I and II astrocytomas for mutations of PTPN11, NRAS, KRAS, and HRAS genes and identified the somatic G12A KRAS mutation in one pilocytic astrocytoma.

17712732

2007