Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 Biomarker disease CTD_human
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR L-arginine-dependent production of a reactive nitrogen intermediate by macrophages of a uricotelic species. 2056246 1991
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 Biomarker disease BEFREE Phenotype-genotype correlations and comparison with SPG3 and SPG5 families indicated that despite the variability of age at onset, SPG4 is a single genetic entity but no clinical features distinguish individual SPG4 patients from those with SPG3 or SPG5 mutations. 8931574 1996
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR The AAA team: related ATPases with diverse functions. 9695811 1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178 1999
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178 1999
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		0.010 GeneticVariation disease BEFREE Three distinct loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4) and 15q (SPG6). 10987648 1999
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. 11015453 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. 11087788 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. 12124993 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. 11843700 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. 11809724 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. 12163196 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Spastin gene mutation in Japanese with hereditary spastic paraplegia. 12161613 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. 11985387 2002