Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 11, autosomal recessive
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
0.700 GeneticVariation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Spastic paraplegia 11, autosomal recessive
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
0.700 CausalMutation CLINVAR