DisGeNET - a database of gene-disease associations

Generalized pustular psoriasis, C0343055

Variant: rs148755083 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

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

28063630

2017

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

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

26589685

2016

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis.

24979538

2015

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

23698098

2013

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

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

23303454

2013

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

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

22903787

2013

dbSNP:

rs148755083

IL36RN

0.700

CausalMutation

CLINVAR

Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.

23863864

2013