GAL, galanin and GMAP prepropeptide, 51083

N. diseases: 226; N. variants: 3
Disease: Hyperkeratosis, Epidermolytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.010 Biomarker disease BEFREE Ichthyoses lacked the epidermal differentiation and tight junction alterations of patients with AD (loricrin, filaggrin, and claudin 1) but showed characteristic alterations in lipid metabolism genes (ELOVL fatty acid elongase 3 and galanin), with parallel reductions in extracellular lipids and corneocyte compaction in all ichthyoses except epidermolytic ichthyosis, suggesting phenotypic variations. 29803800 2019