rs878854991, SPAST

N. diseases: 5
Disease: Hereditary spastic paralysis, infantile onset ascending ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary spastic paralysis, infantile onset ascending
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
0.010 GeneticVariation BEFREE Our results suggest that the p.Arg499His mutation in <i>SPAST</i> should be considered as a differential diagnosis in IAHSP. 31486053 2019