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 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
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 Biomarker disease BEFREE New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia. 31108029 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE 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 		0.400 Biomarker disease BEFREE For SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. 17992088 2007
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 Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. 19652142 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. 17916079 2007
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Mutations of the <i>SPG4</i> (<i>SPAST</i>) gene encoding for spastin protein are the main causes of hereditary spastic paraplegia. 30213879 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia. 24123785 2014
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 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. 29421991 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. 18202664 2008
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 Biomarker disease BEFREE Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE We identified deletions of exon 10 of the SPAST gene in two unrelated families with hereditary spastic paraplegia. 28008689 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 Biomarker disease BEFREE Motor activation in SPG4-linked hereditary spastic paraplegia. 16571355 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE 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 		0.400 GeneticVariation disease BEFREE The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. 19039240 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.400 GeneticVariation disease BEFREE Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP), a heterogeneous group of genetic diseases characterized by degeneration of the corticospinal tracts. 22773755 2013
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 Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia. 27229699 2016