Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Amyotrophic Lateral Sclerosis
|
0.040 | GeneticVariation | BEFREE | We conclude that in the absence of another genetic or environmental 'hit' the A90V variant is not sufficient to cause the deleterious phenotypes associated with ALS and FTD, despite prominent cytoplasmic protein relocalization of TDP-43. | 28286471 | 2017 | |||||
Amyotrophic Lateral Sclerosis
|
0.040 | GeneticVariation | BEFREE | We generated multiple iPSC lines from an FTD/ALS patient with the TARDBP A90V mutation and from an unaffected family member who lacked the mutation. | 24143176 | 2013 | |||||
Amyotrophic Lateral Sclerosis
|
0.040 | GeneticVariation | BEFREE | The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. | 22456481 | 2012 | |||||
Amyotrophic Lateral Sclerosis
|
0.040 | GeneticVariation | BEFREE | Thus, A90V may be a genetic risk factor for FTLD/ALS because it predisposes nuclear TDP-43 to redistribute to the cytoplasm and form pathological aggregates. | 18505686 | 2008 | |||||
Frontotemporal dementia
|
0.030 | GeneticVariation | BEFREE | We conclude that in the absence of another genetic or environmental 'hit' the A90V variant is not sufficient to cause the deleterious phenotypes associated with ALS and FTD, despite prominent cytoplasmic protein relocalization of TDP-43. | 28286471 | 2017 | |||||
Frontotemporal dementia
|
0.030 | GeneticVariation | BEFREE | We generated multiple iPSC lines from an FTD/ALS patient with the TARDBP A90V mutation and from an unaffected family member who lacked the mutation. | 24143176 | 2013 | |||||
Frontotemporal dementia
|
0.030 | GeneticVariation | BEFREE | The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. | 22456481 | 2012 | |||||
Alzheimer's Disease
|
0.020 | GeneticVariation | BEFREE | Finally, we found that the carrier frequency of rare variant p.A90V was higher in French-Belgian AD cases (5/1714, 0.29%) than in controls of European descent (5/9436, 0.05%) (odds ratio = 5.5; 95% confidence interval, 1.6-19.0; p = 0.009). | 25442115 | 2015 | |||||
Alzheimer's Disease
|
0.020 | GeneticVariation | BEFREE | However, co-segregation of p.Ala90Val with AD could not be realized leaving its pathogenic unclear at this moment. | 20555136 | 2010 | |||||
Pick Disease of the Brain
|
0.010 | GeneticVariation | BEFREE | The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. | 22456481 | 2012 | |||||
Dementia
|
0.010 | GeneticVariation | BEFREE | Pathogenic TDP-43 gene (TARDBP) mutations have been identified in familial ALS kindreds, and here we report a TARDBP variant (A90V) in a FTLD/ALS patient with a family history of dementia. | 18505686 | 2008 | |||||
Presenile dementia
|
0.010 | GeneticVariation | BEFREE | Pathogenic TDP-43 gene (TARDBP) mutations have been identified in familial ALS kindreds, and here we report a TARDBP variant (A90V) in a FTLD/ALS patient with a family history of dementia. | 18505686 | 2008 |