Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. 19000169 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR 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 		1.000 GeneticVariation disease UNIPROT Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178 1999
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 Biomarker disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 16240363 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Mental deficiency in three families with SPG4 spastic paraplegia. 17957230 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR 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 		1.000 GeneticVariation disease CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR The AAA team: related ATPases with diverse functions. 9695811 1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. 12552568 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease CLINVAR Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. 24381312 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 16240363 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration. 23833562 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR L-arginine-dependent production of a reactive nitrogen intermediate by macrophages of a uricotelic species. 2056246 1991