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 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 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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.020 GeneticVariation group BEFREE Rare variants in the genes IL36RN, CARD14 and AP1S3 have been identified to cause or contribute to pustular skin diseases, primarily generalized pustular psoriasis (GPP). 28887889 2018
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.020 GeneticVariation group BEFREE Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit σ1C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psoriasis. 24791904 2014
CUI: C0152081
Disease: Pustular psoriasis
Pustular psoriasis 		0.020 GeneticVariation disease BEFREE AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014
CUI: C0152081
Disease: Pustular psoriasis
Pustular psoriasis 		0.020 GeneticVariation disease BEFREE The identification of IL36RN mutation carriers harbouring additional rare variants in CARD14 or AP1S3 indicates a more complex mode of inheritance of pustular psoriasis. 28887889 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness. 30228364 2018
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 Biomarker disease BEFREE We showed that as a consequence, AP1S3-deficient cells up-regulate IL-1 signaling and overexpress IL-36α, a cytokine that is emerging as an important mediator of skin inflammation. 27388993 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE In addition, treatment with synthetic peptide that contains the AP1S3-recognized motif inhibited HCV infection in Huh7.5.1 cells. 27079945 2016
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		0.010 GeneticVariation disease BEFREE We screened IL36RN and AP1S3 for intragenic copy-number variants and 258 patients with PPP for coding changes in AP1S3. 28887889 2018
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		0.010 Biomarker group BEFREE Mutations in ADA2, TRNT1 and COPA, AP1S3, and TNFRSF11A cause complex syndromes; loss-of-function mutations in enzymes and molecules are linked to the generation of 'cellular stress' and the release of inflammatory mediators that likely cause the inflammatory disease manifestations. 26196376 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness. 30228364 2018
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 Biomarker disease BEFREE High expression of miR-148a-5p targets (PHLDA2, LPCAT2 and AP1S3) and miR-148a-3p targets (SMA, ENDOD1 and UHMK1) was associated with poor prognosis of patients with PDAC. 29660218 2018
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 AlteredExpression disease BEFREE AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness. 30228364 2018
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.010 Biomarker disease BEFREE We showed that as a consequence, AP1S3-deficient cells up-regulate IL-1 signaling and overexpress IL-36α, a cytokine that is emerging as an important mediator of skin inflammation. 27388993 2016
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 AlteredExpression disease BEFREE AP1S3 overexpression was detected in TNBC clinical specimens and enhanced cancer cell aggressiveness. 30228364 2018
CUI: C4015235
Disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		0.500 Biomarker disease CTD_human
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.300 Biomarker disease CTD_human
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.100 Biomarker disease HPO
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema 		0.100 Biomarker disease HPO
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		0.500 GermlineCausalMutation disease ORPHANET AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014