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 		0.400 Biomarker disease BEFREE <i>MiR-33a</i> is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons. 30777884 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. 15637712 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. 15667412 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE 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 		0.400 Biomarker disease BEFREE Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. 16009377 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. 16602018 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE SPAST mutations in Australian patients with hereditary spastic paraplegia. 23252998 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. 30489674 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE 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 		0.400 GeneticVariation disease BEFREE A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. 17895902 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease MGD 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 		0.400 GeneticVariation disease LHGDN A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia. 19939411 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations. 23264559 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN A second leaky splice-site mutation in the spastin gene. 11704932 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. 19494379 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. 15210521 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. 21659953 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset. 31698101 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. 15841487 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease LHGDN Clinical and genetic study of a large SPG4 Italian family. 15858810 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Clinical features of hereditary spastic paraplegia due to spastin mutation. 16832076 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008