KIF5C, kinesin family member 5C, 3800

N. diseases: 33; N. variants: 3
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 GeneticVariation disease BEFREE SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. 18245137 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.020 GeneticVariation disease BEFREE A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). 12355402 2002