SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Paraplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 GeneticVariation disease BEFREE Mutations in the spastin gene (SPAST) are responsible for SPG4 and account approximately for 50% of the dominantly inherited paraplegias with a pure HSP phenotype. 22960362 2012
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 Biomarker disease LHGDN Mental deficiency in three families with SPG4 spastic paraplegia. 17957230 2008
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 Biomarker disease LHGDN Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913 2005
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 GeneticVariation disease LHGDN Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568 2003
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 GeneticVariation disease LHGDN A novel mutation in the spastin gene in a family with spastic paraplegia. 12023066 2002
CUI: C0030486
Disease: Paraplegia
Paraplegia 		0.150 Biomarker disease HPO