SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Spastic paraplegia 4, autosomal dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479 2014
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 23279441 2013
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213 2006
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913 2005
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. 14732620 2004
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568 2003
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. 12124993 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. 12202986 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 11809724 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. 11985387 2002
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788 2000
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453 2000
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187 2000
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		0.800 GeneticVariation UNIPROT Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178 1999
dbSNP: rs878854992
rs878854992
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease:
Spastic paraplegia 4, autosomal dominant 		C 0.800 GeneticVariation CLINVAR