KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: Spastic paraplegia 10, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease GENOMICS_ENGLAND Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). 29566793 2018
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease BEFREE KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and weakness of the lower limbs (SPG10). 30411208 2018
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease BEFREE Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). 29566793 2018
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease BEFREE Since this phenotype differs considerably from the KIF5A/SPG10 disease spectrum we propose that the KIF5A p.Ser974fs and possibly other mutations which lead to truncation of the C-terminal tail of the protein cause a novel disorder. 27414745 2017
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease GENOMICS_ENGLAND Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. 25352184 2015
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GermlineCausalMutation disease ORPHANET To confirm the involvement of the KIF5A gene in both CMT2 and SPG10 phenotypes and to define the frequency of KIF5A mutations in an Italian HSP patient population, we performed a genetic screening of this gene in a series of 139 HSP and 36 CMT2 affected subjects. 21623771 2012
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease BEFREE To confirm the involvement of the KIF5A gene in both CMT2 and SPG10 phenotypes and to define the frequency of KIF5A mutations in an Italian HSP patient population, we performed a genetic screening of this gene in a series of 139 HSP and 36 CMT2 affected subjects. 21623771 2012
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 21107874 2011
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 18853458 2009
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. 18245137 2008
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease BEFREE To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. 18245137 2008
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. 18203753 2008
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease GENOMICS_ENGLAND A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. 16476820 2006
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. 16489470 2006
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. 16476820 2006
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. 15452312 2004
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease UNIPROT A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease BEFREE A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 CausalMutation disease CLINVAR
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 GeneticVariation disease CLINVAR
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		0.760 Biomarker disease CTD_human