Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 2019602 1991
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO