SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0495694
Disease: Dysarthria and anarthria
Dysarthria and anarthria
0.010 GeneticVariation phenotype BEFREE A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria. 31486053 2019