Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 15, autosomal recessive
0.950 CausalMutation disease CLINVAR Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
Spastic paraplegia 15, autosomal recessive
0.950 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum. 27544497 2016
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. 25842392 2015
Spastic paraplegia 15, autosomal recessive
0.950 CausalMutation disease CLINVAR Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 24833714 2014
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease BEFREE Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. 24030950 2013
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease MGD A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. 24367272 2013
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
Spastic paraplegia 15, autosomal recessive
0.950 GermlineCausalMutation disease ORPHANET SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. 19805727 2009
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease BEFREE Kjellin syndrome is characterized by central retinal degeneration in addition to ARHSP-TCC and the disease is associated with mutations in the SPG15 gene. 19194956 2009
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. 19917823 2009
Spastic paraplegia 15, autosomal recessive
0.950 GermlineCausalMutation disease ORPHANET The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. 18394578 2008
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease BEFREE The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. 18394578 2008
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. 18394578 2008
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease CLINVAR The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. 18394578 2008
Spastic paraplegia 15, autosomal recessive
0.950 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
Spastic paraplegia 15, autosomal recessive
0.950 GeneticVariation disease BEFREE Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus. 17661097 2007
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease GENOMICS_ENGLAND Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus. 17661097 2007
Spastic paraplegia 15, autosomal recessive
0.950 Biomarker disease CTD_human