DisGeNET - a database of gene-disease associations

IL36RN, interleukin 36 receptor antagonist, 26525

N. diseases: 47; N. variants: 22

Disease: Generalized pustular psoriasis ×

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:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

CausalMutation

CLINVAR

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

27220475

2016

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

GeneticVariation

BEFREE

Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.

23428889

2013

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

GeneticVariation

UNIPROT

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

22903787

2013

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

CausalMutation

CLINVAR

Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.

23428889

2013

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

CausalMutation

CLINVAR

Mutations in IL36RN in patients with generalized pustular psoriasis.

23648549

2013

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

CausalMutation

CLINVAR

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

23303454

2013

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

GeneticVariation

UNIPROT

Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

21839423

2011

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

GeneticVariation

UNIPROT

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

21848462

2011

dbSNP:

rs144478519

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.810

CausalMutation

CLINVAR

Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

21839423

2011

dbSNP:

rs151325121

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

22903787

2013

dbSNP:

rs387906914

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

22903787

2013

dbSNP:

rs397514629

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

22903787

2013

dbSNP:

rs151325121

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

21848462

2011

dbSNP:

rs151325121

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

21839423

2011

dbSNP:

rs387906914

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

CausalMutation

CLINVAR

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

21848462

2011

dbSNP:

rs387906914

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

21848462

2011

dbSNP:

rs387906914

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

21839423

2011

dbSNP:

rs397514629

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

21848462

2011

dbSNP:

rs397514629

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

GeneticVariation

UNIPROT

Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

21839423

2011

dbSNP:

rs151325121

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

CausalMutation

CLINVAR

dbSNP:

rs397514629

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.800

CausalMutation

CLINVAR

dbSNP:

rs148755083

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.700

CausalMutation

CLINVAR

Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.

28063630

2017

dbSNP:

rs139497891

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.700

GeneticVariation

CLINVAR

Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

26589685

2016

dbSNP:

rs139497891

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.700

GeneticVariation

CLINVAR

Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status.

27096382

2016

dbSNP:

rs139497891

Entrez Id:	26525
Gene Symbol:	IL36RN

IL36RN

CUI:	C0343055
Disease:

Generalized pustular psoriasis

0.700

GeneticVariation

CLINVAR

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

27220475

2016