rs281875214, CARD14

N. diseases: 7
Disease: Psoriasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.020 GeneticVariation BEFREE Rare, highly penetrant, gain-of-function, dominantly acting mutations within the human caspase recruitment domain family, member 14 (CARD14) gene lead to the development of PS and psoriatic arthritis (PSA) (a familial p.G117S and de-novo p.E138A alteration). 31323190 2019
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.020 GeneticVariation BEFREE Inhibition of MALT1 with mepazine reduced CARD14(E138A)-induced expression of specific psoriasis-associated transcripts in keratinocytes. 27071417 2016