rs587777132, ALS2

N. diseases: 3
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.010 GeneticVariation BEFREE We report the novel ALS2 truncating mutation c.2761C>T; p.R921X detected by homozygosity mapping and sequencing in two infants affected by IAHSP with bulbar involvement. 24315819 2014