| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | CausalMutation | disease | CLINVAR | Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. | 27100199 | 2016 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. | 28350801 | 2017 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. | 15205973 | 2004 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. | 10447269 | 1999 | ||||
|
0.800 | Biomarker | disease | CTD_human | The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. | 11094121 | 2000 | ||||
|
0.800 | Biomarker | disease | HPO | |||||||
|
0.800 | GeneticVariation | disease | UNIPROT | The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. | 11094121 | 2000 | ||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. | 22503161 | 2012 | ||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. | 26539891 | 2015 | ||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. | 28664294 | 2017 | ||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND | The genetics of Alzheimer disease. | 23028126 | 2012 | ||||
|
0.800 | Biomarker | disease | GENOMICS_ENGLAND |