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 GermlineCausalMutation disease ORPHANET AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014
CUI: C0392439
Disease: Acrodermatitis continua of Hallopeau
Acrodermatitis continua of Hallopeau 		0.300 GermlineCausalMutation disease ORPHANET AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014
CUI: C4015235
Disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.600 GeneticVariation disease UNIPROT AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. 24791904 2014
CUI: C4015235
Disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4015235
Disease: PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 		0.600 Biomarker disease GENOMICS_ENGLAND AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production. 27388993 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.300 Biomarker disease GENOMICS_ENGLAND