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: rs766196255
rs766196255
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant. 30461104 2019
dbSNP: rs766196255
rs766196255
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE We identified a novel mutation, c.1069G > A (p.Gly357Ser) and a known mutation in sporadic ALS. 20675015 2012