Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.030 GeneticVariation disease BEFREE We performed a mutational screening of all PEN-2 coding and promoter regions in a FAD cohort derived from Southern Italy. 22055974 2011
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.030 GeneticVariation disease BEFREE However, in H4 cells stably transfected to express the FAD-linked Delta9 mutation (PS1 lacking exon 9), RNAi for PEN-2 did not increase but, instead, decreased PS1-FL. 15781968 2005
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD)
0.030 GeneticVariation disease BEFREE PEN-2 gene mutation in a familial Alzheimer's disease case. 16170650 2005