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: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations. 19289482

2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation LHGDN Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis. 16240363

2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis. 16240363

2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation. 15197701

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE Mutations in spastin cause the most common form of pure autosomal dominant hereditary spastic paraparesis (SPG4). 12939659

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. 14656074

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation BEFREE To study a population of patients with hereditary spastic paraparesis for mutations in the spastin gene (SPG4) on chromosome 2p21-22. 11015453

2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation 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
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 GeneticVariation CLINVAR

Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.170 CausalMutation CLINVAR