Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.120 GeneticVariation phenotype BEFREE Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation. 23221952 2013
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.120 CausalMutation phenotype CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.120 GeneticVariation phenotype BEFREE SPG11 compound mutations in spastic paraparesis with thin corpus callosum. 18663179 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.120 GeneticVariation phenotype LHGDN Loss-of-function SPG11 mutations are the major cause of autosomal recessive hereditary spastic paraparesis with thin corpus callosum in Southern Europe, even in apparently sporadic cases. 18663179 2008
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.120 GeneticVariation phenotype CLINVAR