Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation BEFREE We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein. 31751864

2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547

2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker GENOMICS_ENGLAND 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation BEFREE Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). 27789400

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. 27260292

2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker 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
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Multimodal MRI-based study in patients with SPG4 mutations. 25658484

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. 24381312

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 Biomarker BEFREE Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons. 24123785

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 25421405

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation UNIPROT Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. 24824479

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 GeneticVariation CLINVAR Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 CausalMutation CLINVAR Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. 25341883

2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		1.000 AlteredExpression BEFREE Furthermore, our human model offers an ideal platform for pharmacological screenings with the goal to restore physiological spastin levels in SPG4 patients. 24381312

2014