Disease: Spastic Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497 2016
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease BEFREE The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. 18098276 2008
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation disease CLINVAR Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. 18394578 2008
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation disease CLINVAR [Koryak of Kamchatka. The genetic differentiation of the population]. 6944241 1981
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 Biomarker disease HPO