Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17
0.100 CausalMutation disease CLINVAR N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. 21750110 2011
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17
0.100 CausalMutation disease CLINVAR Seipinopathy: a novel endoplasmic reticulum stress-associated disease. 18790819 2009
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17
0.100 CausalMutation disease CLINVAR Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. 17387721 2007
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17
0.100 GeneticVariation disease CLINVAR