Disease: Congenital ichthyosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.010 GeneticVariation disease BEFREE Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism. 28575648 2017