Disease: Generalized pustular psoriasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.330 GeneticVariation disease BEFREE Generalized pustular psoriasis (GPP) is now known to be caused by biallelic variants in IL36RN and monoallelic variants in CARD14 and AP1S3. 31353537 2019
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.330 GeneticVariation disease BEFREE Although there are ethnic differences in the prevalences of these pathogenic alleles, from recent reports, at most 60.5% (IL36RN), 5.9% (CARD14), and 10.8% (AP1S3) of GPP patients have the mutations/variations of these genes. 31813117 2019
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.330 AlteredExpression disease BEFREE Coding exons of IL36RN, CARD14 and AP1S3 were sequenced in 67 patients - 61 with GPP, two with acute generalized exanthematous pustulosis and four with acrodermatitis continua of Hallopeau. 28887889 2018
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		0.330 GermlineCausalMutation disease ORPHANET AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014