TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Neurodegenerative Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356740
rs80356740
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0524851
Disease:
Neurodegenerative Disorders 		0.010 GeneticVariation BEFREE Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) were identified in the analysis of 92 familial ALS patients (3.3%), while no mutations were detected in 24 patients with sporadic ALS or 180 patients with other TDP-43-positive neurodegenerative diseases. 18802454 2008