Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. 14732620

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. 15248095

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 15482961

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Hereditary spastic paraplegia: clinical genetic study of 15 families. 15210521

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT These data suggest that varying spastin RNA levels are found in out-of-frame and missense spastin mutations and imply different mechanisms involved in the molecular pathology of SPG4 linked HSP. 12939659

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613

2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. 12163196

2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 11809724

2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577

2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453

2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker CTD_human