Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393720
Disease: Reflex Epilepsy, Photosensitive
Reflex Epilepsy, Photosensitive
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602 1991