Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Genetic analysis showed a heterozygous mutation in <i>TARDBP</i> (p.A390S) and in <i>SQSTM1</i> (p.P392L), both previously described as causing amyotrophic lateral sclerosis. 30889971 2019