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 New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia. 31108029 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 Biomarker disease BEFREE Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. 31594988 2019
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 BEFREE Mutations in the gene encoding the microtubule severing ATPase spastin are the most frequent cause of hereditary spastic paraplegia, a genetic condition characterised by length-dependent axonal degeneration. 31587092 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Novel mutations in the SPAST gene cause hereditary spastic paraplegia. 31751864 2019
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 Biomarker disease BEFREE Even though SPAST is well known as a regulator of the axon growth and arborization in neurons and a genetic factor of hereditary spastic paraplegia, it also takes part in a wide range of other cellular functions including the regulation of cell division and proliferation. 31150727 2019
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 Mutations of the SPAST gene, which encodes the microtubule-severing protein spastin, are the most common cause of hereditary spastic paraplegia (HSP). 30520996 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE The AAA+ ATPase spastin remodels microtubule arrays through severing and its mutation is the most common cause of hereditary spastic paraplegias (HSP). 31285604 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks. 30737580 2019
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 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 Biomarker disease BEFREE Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy. 29481671 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Mutations in <i>SPG4</i>-encoding spastin cause hereditary spastic paraplegia (HSP). 30082270 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Missense mutations of the SPAST gene are frequently detected in patients with hereditary spastic paraplegias (HSPs) and represent the main reason of loss of SPAST function; however, the pathogenicity of mutant SPAST is heterogeneous. 30006150 2018
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 CausalMutation disease CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Truncating mutations of <i>SPAST</i> associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin. 28495799 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Mutations in SPG4/SPAST are the most frequent molecular aetiology in the autosomal dominant form of hereditary spastic paraplegia (HSP). 28870597 2017
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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 PosttranslationalModification disease BEFREE The SPAST gene has a major role in hereditary spastic paraplegias (HSPs). 27334366 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. 27789400 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review. 26165777 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.400 GeneticVariation disease BEFREE Mutations in the SPG4 gene (SPG4-HSP) are the most frequent cause of hereditary spastic paraplegia, but the extent of the neurodegeneration related to the disease is not yet known. 25658484 2015