Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.020 GeneticVariation disease BEFREE The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene. 16401857 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.020 GeneticVariation disease BEFREE Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. 9728730 1998