KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease BEFREE We report on a previously unpublished de novo heterozygous likely pathogenic KIF1A variant associated with slowly progressive complicated SPG30 and stable cerebellar atrophy on long-term follow-up, adding to current knowledge on this HSP subtype. 31796088 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 CausalMutation disease CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Individuals with de novo mutations in KIF1A display a phenotype characterized by cognitive impairment and variable presence of cerebellar atrophy, spastic paraparesis, optic nerve atrophy, peripheral neuropathy, and epilepsy. 25265257 2015
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease CLINVAR
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 Biomarker disease HPO