rs121434444, KIF5A

N. diseases: 4
Disease: Spastic Paraplegia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077 2018