|
PSORIASIS 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.
|
27113748 |
2016 |
|
PSORIASIS 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation.
|
27071417 |
2016 |
|
PSORIASIS 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.
|
26358359 |
2016 |
|
PSORIASIS 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
|
22521419 |
2012 |
|
PSORIASIS 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PSORS2 is due to mutations in CARD14.
|
22521418 |
2012 |
|
PSORIASIS 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pityriasis Rubra Pilaris
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.
|
27760266 |
2017 |
|
Pityriasis Rubra Pilaris
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
|
22703878 |
2012 |
|
Psoriasis
|
|
0.030 |
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
|
|
0.030 |
GeneticVariation
|
BEFREE |
In contrast with wild-type CARD14, CARD14(E138A) and CARD14(G117S) psoriasis mutants interacted constitutively with BCL10 and MALT1, and triggered BCL10- and MALT1-dependent activation of NF-κB in keratinocytes.
|
27071417 |
2016 |
|
Psoriasis
|
|
0.030 |
GeneticVariation
|
BEFREE |
One family exhibiting suggestive evidence for linkage to 17q25 (PSORS2) was identified and all affected members harboured a p.Gly117Ser mutation in CARD14 (caspase recruitment domain family, member 14), recently reported to lead to psoriasis in a large family from the U.S.A.
|
23013406 |
2013 |
|
Salivary Gland Pleomorphic Adenoma
|
|
0.010 |
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 |
|
Arthritis, Psoriatic
|
|
0.010 |
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 |
|
Familial psoriasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The c.349G>A (p.Gly117Ser) familial-psoriasis mutation was present at a frequency of 0.0005 in cases of European ancestry.
|
22521419 |
2012 |