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 		0.120 Biomarker disease BEFREE Recombinant SDR9C7 catalyzed NAD+-dependent dehydrogenation of linoleate 9,10-trans-epoxy-11E-13-alcohol to the corresponding 13-ketone, while ichthyosis mutants were inactive. 31671075 2020
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.120 GeneticVariation disease BEFREE Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 28173123 2016
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.120 CausalMutation disease CLINVAR
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.120 GeneticVariation disease CLINVAR