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 Biomarker CTD_human

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

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 GermlineCausalMutation ORPHANET 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
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 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 Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 20550563

2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
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 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
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 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 High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 25421405

2014
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 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 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 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 Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. 15716377

2005
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 Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380

2014
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 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 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

2011