Gene: SPAST ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group 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 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group 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 		0.110 CausalMutation group 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 		0.110 GeneticVariation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group 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 		0.110 CausalMutation group 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 		0.110 CausalMutation group CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group 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 		0.110 GeneticVariation group CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Normal spastin gene dosage is specifically required for axon regeneration. 23122959 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group CLINVAR Normal spastin gene dosage is specifically required for axon regeneration. 23122959 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group 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 		0.110 CausalMutation group 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 		0.110 GeneticVariation group 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