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 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 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 GeneticVariation 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 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 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 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 GeneticVariation disease CLINVAR L-arginine-dependent production of a reactive nitrogen intermediate by macrophages of a uricotelic species. 2056246 1991
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease BEFREE To our knowledge, this is the first report of SPG4 associated with partial deletions of both the SPAST and DPY30 genes. 20857310 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. 15716377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 25421405 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease BEFREE Thus, Alu-specific microhomology-mediated intragenic rearrangements in SPAST may be a common cause of SPG4. 21659953 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. 12163196 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. 14732620 2004