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 Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
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 Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
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 Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia. 28572275

2017
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 Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

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 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 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 Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362

2012
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 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

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 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 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. 20214791

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 Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. 19000169

2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340

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 Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. 17389232

2007
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 Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. 16684598

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 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 Biomarker GENOMICS_ENGLAND The presence of lower motor neuron dysfunction in a subgroup of SPG4 patients suggests that the cellular dysfunction in SPG4 extends beyond the axonal projections of upper motor neurons and ascending sensory pathways. 16832076

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 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213

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 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 Biomarker GENOMICS_ENGLAND Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 16240363

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 Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. 15891913

2005