rs312262717, SPG11

N. diseases: 18
Disease: Progressive spastic paraparesis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive spastic paraparesis
CUI: C0747251
Disease: Progressive spastic paraparesis
0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009