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 Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. 10980739 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. 11377972 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN A second leaky splice-site mutation in the spastin gene. 11704932 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. 12124993 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. 12163196 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. 12490534 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. 12676568 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene. 14681884 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE To investigate the Chinese patients with hereditary spastic paraplegia for mutations in SPG4. 14732620 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. 15210521 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. 15637712 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. 15667412 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Mutations in the AAA adenosine triphosphatase (ATPase) Spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily characterized pathologically by the degeneration of long spinal neurons in the corticospinal tracts and the dorsal columns. 15716377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. 15841487 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Clinical and genetic study of a large SPG4 Italian family. 15858810 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease LHGDN Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. 15939438 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. 16009377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. 16009769 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease LHGDN Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. 16026783 2005