KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.120 CausalMutation phenotype CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.120 GeneticVariation phenotype BEFREE Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. 25265257 2015
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.120 GeneticVariation phenotype BEFREE Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. 21487076 2011
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.120 GeneticVariation phenotype CLINVAR