TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356715
rs80356715
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
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
dbSNP: rs80356715
rs80356715
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
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
dbSNP: rs80356715
rs80356715
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
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
dbSNP: rs80356715
rs80356715
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
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