| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Early onset familial Alzheimer's disease (FAD) is linked to autosomal dominant mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PS1 and PS2) genes. | 16923170 | 2006 | ||||
|
0.080 | Biomarker | disease | BEFREE | Mutations in the genes that encode the presenilin 1 and 2 (PS1 and PS2) proteins cause the majority of familial Alzheimer's disease (FAD). | 11731004 | 2001 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | These results suggest that the specific downregulation of PS2 gene expression is an early event in sporadic late-onset AD. | 10891593 | 2000 | ||||
|
0.080 | Biomarker | disease | BEFREE | Although some investigators have shown that mutant PS1 processing is unaltered (with the exception of PS1-deltaE9, which lacks the cleavage site) in stably transfected cells and PS1-FAD transgenic mice, other investigators have reported altered FAD mutant PS1 and PS2 protein processing in transiently transfected cells and human FAD patients. | 10386952 | 1999 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Many cases of early-onset familial Alzheimer's disease (FAD) are caused by mutations in the presenilin 1 (PS1) and PS2 genes. | 10025714 | 1999 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Most cases of early onset familial Alzheimer's disease (FAD) involve mutations in presenilins (PS1 and PS2) genes. | 10218912 | 1999 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations of the presenilin PS1 and PS2 genes are closely linked to aggressive forms of early-onset (< 60 years) familial Alzheimer's disease. | 9189035 | 1997 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene. | 7550356 | 1995 |