DisGeNET - a database of gene-disease associations

PTPRC, protein tyrosine phosphatase receptor type C, 5788

N. diseases: 366; N. variants: 18

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:

rs2359952

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASDB

Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.

24837172

2015

dbSNP:

rs2359952

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0009324
Disease:

Ulcerative Colitis

0.800

GeneticVariation

GWASCAT

Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.

24837172

2015

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.740

GeneticVariation

BEFREE

The most significant result was obtained with rs10919563 in PTPRC, which is a confirmed RA susceptibility locus.

25896535

2016

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.740

GeneticVariation

BEFREE

The PTPRC rs10919563 A allele shows a poor response to anti-TNF therapy, and the FCGR2A HH + HR genotype shows a poor response to adalimumab for RA.

27074847

2016

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.740

GeneticVariation

BEFREE

Presence of the rs10919563 RA susceptibility variant at the PTPRC gene locus predicts improved response to anti-TNF biologic therapy.

21952740

2012

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.740

GeneticVariation

GWASDB

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

23143596

2012

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.740

GeneticVariation

BEFREE

Of the 31 RA-associated risk alleles, a SNP at the PTPRC (also known as CD45) gene locus (rs10919563) was associated with the primary end point, a EULAR good response versus no response (odds ratio [OR] 0.55, P = 0.0001 in the multivariate model).

20309874

2010

dbSNP:

rs10494783

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs17668708

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

30929738

2019

dbSNP:

rs17668708

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0741260
Disease:

Adult onset asthma

0.700

GeneticVariation

GWASCAT

Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

30929738

2019

dbSNP:

rs17669032

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0013595
Disease:

Eczema

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2296618

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3767747

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs59271985

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs75567729

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0035242
Disease:

Respiratory Tract Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12733073

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0200635
Disease:

Lymphocyte Count measurement

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs16843742

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0042900
Disease:

Vitiligo

0.700

GeneticVariation

GWASCAT

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

27723757

2016

dbSNP:

rs2296618

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0200641
Disease:

Blood basophil count (lab test)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs2296618

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1553243550

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C1837028
Disease:

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive

0.700

GeneticVariation

CLINVAR

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

10700239

2000

dbSNP:

rs398122383

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C1837028
Disease:

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive

0.700

CausalMutation

CLINVAR

dbSNP:

rs1406268326

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

A PIK3CA T1035A mutation present in a BC-PDX tumor was confirmed in isolated single CTCs and cells from dissociated metastatic nodules after whole genome amplification and sequencing.

30871481

2019

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C3495559
Disease:

Juvenile arthritis

0.010

GeneticVariation

BEFREE

In the present study, we analyzed three single nucleotide polymorphisms (SNPs), namely PTPRC (rs10919563), TYK2 (rs34536443) and PRKCQ (rs4750316), which were found to be associated with JIA in previous studies.

28990043

2017

dbSNP:

rs10919563

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0333516
Disease:

Tumor necrosis

0.010

GeneticVariation

BEFREE

No association was found between PTPRC rs10919563 allele and anti-TNF treatment response, neither in Portuguese modeling for several clinical variables nor in the overall population combining Portuguese and Spanish patients.

25834819

2015

dbSNP:

rs1189209220

Entrez Id:	5788
Gene Symbol:	PTPRC

PTPRC

CUI:	C0006826
Disease:

Malignant Neoplasms

0.010

GeneticVariation

BEFREE

The in vivo cancer-initiating ability was severely compromised in HNSCC cells expressing phosphorylation-insensitive T200A or T280A mutant Nanog; 87.5% (14/16), 12.5% (1/8), and 0% (0/8) for control, T200A, and T280A, respectively.

23708658

2014