Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.190 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.190 CausalMutation CLINVAR Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. 25008398

2014
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.190 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.190 CausalMutation CLINVAR Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. 18853458

2009