Disease: Spastic paraplegia 17 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904 2014
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 CausalMutation CLINVAR Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110 2011
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation BEFREE Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'. 21750110 2011
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation BEFREE N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome. 20598714 2010
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 CausalMutation CLINVAR Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 18790819 2009
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation BEFREE Here we report the third Italian family with dHMN and SPG17 in which two affected members harbor the heterozygous N88S mutation in the BSCL2 gene. 18612770 2008
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation UNIPROT Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. 18585921 2008
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 CausalMutation CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation BEFREE Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation UNIPROT Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L). 17663003 2007
Spastic paraplegia 17
CUI: C2931276
Disease: Spastic paraplegia 17
0.840 GeneticVariation UNIPROT Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. 14981520 2004