SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. 19289482 2009
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype LHGDN Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis. 16240363 2005
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis. 16240363 2005
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation. 15197701 2004
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE Mutations in spastin cause the most common form of pure autosomal dominant hereditary spastic paraparesis (SPG4). 12939659 2003
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. 14656074 2003
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE To study a population of patients with hereditary spastic paraparesis for mutations in the spastin gene (SPG4) on chromosome 2p21-22. 11015453 2000
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype BEFREE Two-point and multi-point linkage analyses in nine families provided supportive evidence that the most common form of SPG is linked to chromosome 2 (SPG4). 9034002 1997
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation phenotype CLINVAR
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 CausalMutation phenotype CLINVAR