Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
0.020 Biomarker disease BEFREE The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg(-1) protein h(-1)) which confirmed the diagnosis of X-linked ichthyosis (XLI) . 19200188 2009
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
0.020 GeneticVariation disease BEFREE No STS activity was detected in the patients with XLI (0.00 pmol mg(-1) protein h(-1)). 18076704 2008