Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis
0.040 GeneticVariation disease BEFREE For example, the recent discovery of the IL-36 receptor gene for generalized pustular psoriasis may prove valuable for other forms of psoriasis. 29565192 2018
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis
0.040 GeneticVariation disease BEFREE Herein, we report a case of a 6-year-old Taiwanese boy with GPP and homozygous mutation at c.115+6T>C within the IL-36 receptor antagonist (IL36RN) gene, who was treated successfully with secukinumab after failure of prior methotrexate, acitretin, cyclosporin A, etanercept and adalimumab. 30230584 2018
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis
0.040 Biomarker disease BEFREE Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN. 28726542 2017
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis
0.040 Biomarker disease BEFREE Recently, homozygous and compound heterozygous mutations of the IL36RN gene, which encodes the anti-inflammatory cytokine interleukin (IL)-36 receptor antagonist, were identified in familial and sporadic cases of various ethnicities with generalized pustular psoriasis. 23834760 2013