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 		0.200 Biomarker disease BEFREE Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (SPG) patients (SPG4 and SPG11) in vitro. 29980238 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. 30476002 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. 28778789 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. 28870597 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. 19875132 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. 18664244 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Mental deficiency in three families with SPG4 spastic paraplegia. 17957230 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Four mutations of the spastin gene in Japanese families with spastic paraplegia. 16788734 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories. 16055926 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations. 15667412 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family. 12736085 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A novel mutation in the spastin gene in a family with spastic paraplegia. 12023066 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 9507385 1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 Biomarker disease HPO
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 CausalMutation disease CLINVAR
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease CLINVAR