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 Two nonsynonymous mutations were detected; 1 known mutation (p.R159H) in a patient with familial ALS with several family members suffering from FTD, and 1 mutation (p.I114V) in a patient with sporadic ALS. 22078486 2012