| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | CausalMutation | disease | CLINVAR | Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. | 9384602 | 1998 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. | 9680315 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. | 9196071 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. | 9225696 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. | 9189043 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. | 8910898 | 1996 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. | 8634712 | 1995 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. | 7596406 | 1995 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. | 7550356 | 1995 | ||||
|
0.800 | GeneticVariation | disease | CLINVAR | |||||||
|
0.800 | Biomarker | disease | HPO | |||||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND |