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 CausalMutation disease CLINVAR Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 24451228 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. 25045380 2014
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration. 23833562 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. 23279441 2013
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR SPAST mutations in Australian patients with hereditary spastic paraplegia. 23252998 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Novel and recurrent spastin mutations in a large series of SPG4 Italian families. 22960362 2012
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. 21546041 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease BEFREE To our knowledge, this is the first report of SPG4 associated with partial deletions of both the SPAST and DPY30 genes. 20857310 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease BEFREE Thus, Alu-specific microhomology-mediated intragenic rearrangements in SPAST may be a common cause of SPG4. 21659953 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 20550563 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations. 20665701 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males. 21546041 2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. 20214791 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. 20932283 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. 20214791 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease BEFREE Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. 20932283 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements. 20214791 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. 20932283 2010