Gene: KIF5A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 GeneticVariation disease BEFREE Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. 18203753 2008
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
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.190 Biomarker disease HPO