Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. 18664244 2009
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 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 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 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 A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. 15159500 2004
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 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 Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. 9507385 1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 Biomarker disease HPO
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 CausalMutation disease CLINVAR
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.200 GeneticVariation disease CLINVAR
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 WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077 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 Missense mutations in kinesin family member 5A (KIF5A) cause spastic paraplegia 10. 27463701 2016
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 CausalMutation disease CLINVAR Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). 26543653 2015
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 CausalMutation disease CLINVAR Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 25008398 2014
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 25008398 2014
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 CausalMutation disease CLINVAR Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 21623771 2012
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432 2012
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 CausalMutation disease CLINVAR Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 18853458 2009
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 Biomarker disease BEFREE Clinically, SPG10 is characterised by spastic paraplegia with mostly subclinical peripheral neuropathy. 18245137 2008