Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.020 Biomarker disease BEFREE The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap. 16401858 2006
Entrez Id: 51062
Gene Symbol: ATL1
ATL1 		0.020 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: 84661
Gene Symbol: DPY30
DPY30 		0.010 GeneticVariation disease BEFREE The partial heterozygous deletion of DPY30 could modify the phenotypic expression of SPG4 patients with this pedigree. 20857310 2011
Entrez Id: 7190
Gene Symbol: HSP90B2P
HSP90B2P 		0.010 Biomarker disease BEFREE These data suggest that varying spastin RNA levels are found in out-of-frame and missense spastin mutations and imply different mechanisms involved in the molecular pathology of SPG4 linked HSP. 12939659 2003
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.010 GeneticVariation disease BEFREE Spastic paraplegia type 4 (SPG4) is the most common autosomal dominant hereditary SPG caused by mutations in the SPAST gene. 20857310 2011
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: 65055
Gene Symbol: REEP1
REEP1 		0.010 GeneticVariation disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015
Entrez Id: 55676
Gene Symbol: SLC30A6
SLC30A6 		0.010 GeneticVariation disease BEFREE Furthermore, we propose that genomic deletions encompassing the final exon of SPAST may affect expression of SLC30A6, the most proximal downstream locus and a gene that has been implicated in the pathogenesis of Alzheimer disease, potentially explaining recent reports of dementia in selected SPG4 patients. 21659953 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 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 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 UNIPROT Hereditary spastic paraplegia caused by mutations in the SPG4 gene. 11039577 2000
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease UNIPROT Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion. 19000169 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR The presence of lower motor neuron dysfunction in a subgroup of SPG4 patients suggests that the cellular dysfunction in SPG4 extends beyond the axonal projections of upper motor neurons and ascending sensory pathways. 16832076 2006
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 Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
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 Biomarker disease BEFREE Three genetic types, SPG3 (ATL1), SPG4 (SPAST) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs). 26671083 2015
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 GeneticVariation disease CLINVAR Spastin mutations in sporadic adult-onset upper motor neuron syndromes. 16240363 2005
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		1.000 CausalMutation disease CLINVAR Mental deficiency in three families with SPG4 spastic paraplegia. 17957230 2008
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 CLINVAR SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia. 27334366 2016
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 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 Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. 16682546 2006