Gene: SPAST ×
Source: UNIPROT ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity. 12460147 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. 12202986 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 20550563 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. 21546041 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 23279441 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia: clinical genetic study of 15 families. 15210521 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 25421405 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. 15716377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. 11985387 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. 20932283 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 16684598 2006