rs121908513, SPAST

N. diseases: 6
Disease: Hereditary Autosomal Dominant Spastic Paraplegia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Autosomal Dominant Spastic Paraplegia
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
0.020 GeneticVariation BEFREE A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. 12202986 2002
Hereditary Autosomal Dominant Spastic Paraplegia
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
0.020 GeneticVariation BEFREE Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia. 30006150 2018