SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Dysarthria and anarthria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854991
rs878854991
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0495694
Disease:
Dysarthria and anarthria 		0.010 GeneticVariation BEFREE A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria. 31486053 2019