Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690

2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Normal spastin gene dosage is specifically required for axon regeneration. 23122959

2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690

2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR Normal spastin gene dosage is specifically required for axon regeneration. 23122959

2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 CausalMutation CLINVAR 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.110 GeneticVariation CLINVAR Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. 19453301

2009