rs672601368, KIF1A

N. diseases: 10
Disease: PEHO syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PEHO syndrome
CUI: C1850055
Disease: PEHO syndrome
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016