KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707173
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. 21623771 2012