Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. 20110243 2010
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 Biomarker disease GENOMICS_ENGLAND SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. 19196735 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. 19105190 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease UNIPROT We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. 19105190 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease CLINVAR We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. 19105190 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GermlineCausalMutation disease ORPHANET We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. 19105190 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease BEFREE Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. 18787847 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity. 19438933 2009
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 18079167 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. 18337587 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease UNIPROT Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. 18079167 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 18332254 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. 18835492 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). 18717728 2008
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GermlineCausalMutation disease ORPHANET Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 Biomarker disease GENOMICS_ENGLAND Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 18067136 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease UNIPROT Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. 17717710 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 GeneticVariation disease CLINVAR Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 Biomarker disease GENOMICS_ENGLAND Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. 17322883 2007
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		0.960 CausalMutation disease CLINVAR Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. 18067136 2007