Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 10, autosomal dominant
0.020 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
Spastic paraplegia 10, autosomal dominant
0.020 Biomarker 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