SERPINB8, serpin family B member 8, 5271

N. diseases: 10; N. variants: 4
Disease: ICHTHYOSIS EXFOLIATIVA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease BEFREE In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 GermlineCausalMutation disease ORPHANET In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease CLINGEN In conclusion, we report mutations in SERPINB8 that are associated with exfoliative ichthyosis and provide evidence that SERPINB8 contributes to the mechanical stability of intercellular adhesions in the epidermis. 27476651 2016
CUI: C1838440
Disease: ICHTHYOSIS EXFOLIATIVA
ICHTHYOSIS EXFOLIATIVA 		0.510 Biomarker disease CLINGEN Distribution of the human intracellular serpin protease inhibitor 8 in human tissues. 12417609 2002