Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.030 AlteredExpression disease BEFREE The key genes, phosphoproteins, processes, and pathways affected by efavirenz-activated CYP46A1 in the amyloid-decreasing paradigm of efavirenz treatment. 31063705 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.030 GeneticVariation disease BEFREE In the present study, these claims have been explored by the genotyping of previously associated markers in CYP46A1 in three independent northern European case-control series encompassing 1323 individuals and including approximately 400 patients with measurements of CSF Abeta42 and phospho-tau protein levels. 15034781 2004
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.030 GeneticVariation disease BEFREE Further, in an autopsy confirmed subset of this cohort, the proposed CYP46 risk genotype was not associated with any increase in the brain levels of amyloid-beta40, amyloid-beta42 or in the levels of amyloid plaques and neurofibrillary tangles. 15331159 2004