Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.430 GeneticVariation disease BEFREE SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692 2013
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.430 GeneticVariation disease BEFREE The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases. 11549317 2001
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.430 GeneticVariation disease BEFREE Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427 1998
Entrez Id: 23204
Gene Symbol: ARL6IP1
ARL6IP1 		0.410 Biomarker disease BEFREE This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia. 28471035 2018
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.310 GeneticVariation disease BEFREE The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease. 26423925 2015
Entrez Id: 1130
Gene Symbol: LYST
LYST 		0.310 GeneticVariation disease BEFREE Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation. 24521565 2014
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.310 Biomarker disease BEFREE Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). 11160968 2001
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. 28778789 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. 19875132 2010
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family. 12736085 2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Four mutations of the spastin gene in Japanese families with spastic paraplegia. 16788734 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. 18664244 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 Biomarker disease BEFREE Eventually, we further validated the cellular changes in fibroblasts of two major spastic paraplegia (SPG) patients (SPG4 and SPG11) in vitro. 29980238 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Mental deficiency in three families with SPG4 spastic paraplegia. 17957230 2008
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A novel mutation in the spastin gene in a family with spastic paraplegia. 12023066 2002
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. 30476002 2018
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation. 28870597 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations. 15667412 2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 9507385 1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories. 16055926 2006
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease BEFREE A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. 27463701 2016
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). 29342275 2018
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Numerous missense KIF5A mutations in the motor and stalk domains cause spastic paraplegia type 10 (SPG10, OMIM 604187). 27414745 2017
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE In conclusion, these data confirm the presence of SPG10 (chromosome 12), potentially reduce the minimum candidate region for SPG12 (chromosome 19q), and suggest there is at least one additional autosomal dominant SPG locus. 11354831 2001