KIF1A, kinesin family member 1A, 547

N. diseases: 11; N. variants: 44
Disease: PEHO syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601368
rs672601368
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1850055
Disease:
PEHO syndrome 		T 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016