Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | GeneticVariation | disease | BEFREE | Mechanistically, the entities include generalized pustular psoriasis (GPP) without psoriasis vulgaris, impetigo herpetiformis and acrodermatitis continua, which are IL-36Ra-related pustuloses caused by loss-of-function mutations in IL36RN; GPP with psoriasis vulgaris and palmoplantar pustular psoriasis which are CARD14-mediated pustular psoriasiform dermatoses with gain-of-function variants of CARD14; PRP type V which is caused by gain-of-function mutations in CARD14; and, familial KLC in which mutations in NLRP1, an inflammasome sensor protein predominantly expressed in skin, have been identified. | 29422292 | 2018 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | The patients with generalized pustular psoriasis exhibited the highest IL36RN mutation rate (75 %) among the aforementioned patient types, with the subgroup consisting of those patients who had features of acrodermatitis continua of Hallopeau exhibiting the highest c.115+6T>C mutation rate (93.8 %). | 26589685 | 2016 | ||||
|
0.330 | GeneticVariation | disease | BEFREE | IL36RN mutations are also found in some patients with severe acute generalized exanthematous pustulosis, palmar-plantar pustulosis, and acrodermatitis continua of hallopeau. | 24656634 | 2014 | ||||
|
0.330 | GermlineCausalMutation | disease | ORPHANET | Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. | 23303454 | 2013 | ||||
|
0.300 | GermlineCausalMutation | disease | ORPHANET | AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. | 24791904 | 2014 | ||||
|
0.010 | Biomarker | disease | BEFREE | The disease, which often manifests with concurrent psoriasis vulgaris, can have an acute systemic (generalized pustular psoriasis [GPP]) or chronic localized (palmoplantar pustulosis [PPP] and acrodermatitis continua of Hallopeau [ACH]) presentation. | 30036598 | 2019 |