Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE The E318G variant was detected with similar frequencies in the cases with eoAD and FTLD and the healthy controls, therefore, showing no association between E318G and eoAD. 21959359 2013
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V. 18525293 2008
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases. 15119739 2004
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.040 GeneticVariation BEFREE This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD. 10896268 2000