KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Athetosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004158
Disease: Athetosis
Athetosis 		0.100 CausalMutation phenotype CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016