Gene: SPAST ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 CausalMutation group CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group BEFREE Although mutations in the SPAST gene explain approximately 40% of the pure autosomal dominant forms, molecular diagnosis can be challenging for the sporadic and recessive forms, which are often complicated and clinically overlap with a broad number of movement disorders. 23438842 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 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008
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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation 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
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 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 GeneticVariation group CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 CausalMutation group CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884 2003
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 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 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 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 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 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.110 GeneticVariation group CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001