TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Frontotemporal Lobar Degeneration ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356717
rs80356717
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0751072
Disease:
Frontotemporal Lobar Degeneration 		0.010 GeneticVariation BEFREE One of the multitasking proteins, transactive response DNA-binding protein 43 (tdp43) plays a key role in RNA regulation and the two pathogenic mutations such as D169G and K263E, located at the RNA Recognition Motif (RRM) of tdp43, are reported to cause neurological disorders such as Amyotrophic Lateral Sclerosis and FrontoTemporal Lobar Degeneration. 28330421 2018