SERPINB8, serpin family B member 8, 5271

N. diseases: 10; N. variants: 4
Disease: PEELING SKIN SYNDROME 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 Biomarker disease GENOMICS_ENGLAND Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. 27476651 2016
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 CausalMutation disease CLINVAR
CUI: C4310710
Disease: PEELING SKIN SYNDROME 5
PEELING SKIN SYNDROME 5 		0.400 GeneticVariation disease CLINVAR