Gene: SPAST ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Clinical features of hereditary spastic paraplegia due to spastin mutation. 16832076 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Motor activation in SPG4-linked hereditary spastic paraplegia. 16571355 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease MGD A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 16684598 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. 17035675 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE We propose that the KIF5A gene should be routinely analyzed in patients with hereditary spastic paraplegia negative for spastin and atlastin mutations. 16476820 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. 16602018 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Four mutations of the spastin gene in Japanese families with spastic paraplegia. 16788734 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia. 16476945 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE For SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. 17992088 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. 17916079 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease LHGDN The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. 17420921 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia. 17539946 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. 17895902 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. 17098887 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. 18202664 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. 18202664 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). 18644145 2008