DisGeNET - a database of gene-disease associations

PTPRN2, protein tyrosine phosphatase receptor type N2, 5799

N. diseases: 40; N. variants: 16

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:

rs10281741

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASCAT

Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

31551469

2019

dbSNP:

rs10949662

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

29326435

2019

dbSNP:

rs11765189

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0036341
Disease:

Schizophrenia

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

31374203

2019

dbSNP:

rs11765189

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

31374203

2019

dbSNP:

rs56211164

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs56283944

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10949662

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018

dbSNP:

rs10949662

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs11765189

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs1242780

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

29545352

2018

dbSNP:

rs1242780

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1561643
Disease:

Chronic Kidney Diseases

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

29545352

2018

dbSNP:

rs55770502

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs7802459

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs7802459

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs896773

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs896773

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs111630016

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs117114682

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0278704
Disease:

Malignant Childhood Neoplasm

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.

29059430

2017

dbSNP:

rs117114682

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0678222
Disease:

Breast Carcinoma

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.

29059430

2017

dbSNP:

rs4272321

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C1611184
Disease:

Calcification of coronary artery

0.700

GeneticVariation

GWASCAT

Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

29221444

2017

dbSNP:

rs4272321

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0011860
Disease:

Diabetes Mellitus, Non-Insulin-Dependent

0.700

GeneticVariation

GWASCAT

Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.

29221444

2017

dbSNP:

rs2533291

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0011615
Disease:

Dermatitis, Atopic

0.700

GeneticVariation

GWASCAT

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

25574825

2015

dbSNP:

rs2533291

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0033860
Disease:

Psoriasis

0.700

GeneticVariation

GWASCAT

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

25574825

2015

dbSNP:

rs10274279

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0154778
Disease:

Myopia, Degenerative

0.700

GeneticVariation

GWASCAT

A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

23049088

2012

dbSNP:

rs1638021

Entrez Id:	5799
Gene Symbol:	PTPRN2

PTPRN2

CUI:	C0027051
Disease:

Myocardial Infarction

0.700

GeneticVariation

GWASDB

Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

21211798

2011