DisGeNET - a database of gene-disease associations

PSORIASIS 2, C1864497

Variant: rs281875213 ×

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:

rs281875213

CARD14

0.800

GeneticVariation

UNIPROT

The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.

27113748

2016

dbSNP:

rs281875213

CARD14

0.800

GeneticVariation

UNIPROT

Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation.

27071417

2016

dbSNP:

rs281875213

CARD14

0.800

GeneticVariation

UNIPROT

CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.

26358359

2016

dbSNP:

rs281875213

CARD14

0.800

GeneticVariation

UNIPROT

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

22521419

2012

dbSNP:

rs281875213

CARD14

0.800

GeneticVariation

UNIPROT

PSORS2 is due to mutations in CARD14.

22521418

2012

dbSNP:

rs281875213

CARD14

0.800

CausalMutation

CLINVAR