DisGeNET - a database of gene-disease associations

IL4R, interleukin 4 receptor, 3566

N. diseases: 242; N. variants: 36

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:

rs1805013

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.710

GeneticVariation

GWASCAT

Identification of a new locus at 16q12 associated with time to asthma onset.

27130862

2016

dbSNP:

rs1805013

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.710

GeneticVariation

BEFREE

IL4R Glu375Ala (rs1805011) and Ser411Leu (rs1805013) were associated with asthma in the asthma case-control population.

20484924

2010

dbSNP:

rs145986476

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

31619474

2019

dbSNP:

rs2072130

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3024622

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

31619474

2019

dbSNP:

rs3024655

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

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

30929738

2019

dbSNP:

rs3024655

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0741260
Disease:

Adult onset asthma

0.700

GeneticVariation

GWASCAT

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

30929738

2019

dbSNP:

rs3024665

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0013595
Disease:

Eczema

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0264408
Disease:

Childhood asthma

0.700

GeneticVariation

GWASCAT

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

30929738

2019

dbSNP:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0264408
Disease:

Childhood asthma

0.700

GeneticVariation

GWASCAT

Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

31036433

2019

dbSNP:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.700

GeneticVariation

GWASCAT

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

30929738

2019

dbSNP:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0035242
Disease:

Respiratory Tract Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

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:

rs3785356

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

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:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C1840254
Disease:

ATOPY, SUSCEPTIBILITY TO (finding)

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs1805010

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C1840084
Disease:

ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO

0.700

CausalMutation

CLINVAR

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

IL-4 rs2243250 and rs2070874 allele and genotype frequencies did not significantly differ between the asthma and control groups (P > 0.05), but those of IL-4R rs1801275 did (P < 0.05).

27819719

2016

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

The results of this meta-analysis suggested that the IL4RA I50V and Q551R polymorphisms may be risk factors for developing asthma.

23922687

2013

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

Polymorphisms rs2243250 and rs2070874 of IL-4 and rs1801275 and rs1805011 of IL4R were associated with asthma.

23924473

2013

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

We found an association between atopic bronchial asthma and the SNPs Gln576Arg in IL4RA and -33C>T in IL4.

22533235

2012

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

The IL4RA Q551R SNP is associated with nonatopic asthma in Slovenian children.

20517665

2010

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

The combined analysis of two IL4RA single nucleotide polymorphisms (SNPs) (I50V and Q551R) showed an association with asthma: IL4RA V50/Q551 was associated with risk (OR = 2.48, p = 0.007) whereas the IL4RA V50R551 haplotype was associated with protection (OR = 0.31, p = 0.003).

18849614

2009

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by selectively augmenting IL-4R alpha-dependent signaling.

19770271

2009

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

We sought to determine the average risk of asthma associated with the I50V and Q551R IL4R variants based on the results of case-control studies reported in the literature.

17586032

2007

dbSNP:

rs1801275

Entrez Id:	3566
Gene Symbol:	IL4R

IL4R

CUI:	C0004096
Disease:

Asthma

0.100

GeneticVariation

BEFREE

We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), IL-4R alpha (Gln576Arg), TNF-alpha (G-308A) and LT-alpha (A252G) genes as candidates and asthma in adult Hong Kong Chinese population.

17536219

2007