KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: PEHO syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906799
rs387906799
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1850055
Disease:
PEHO syndrome 		A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
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
dbSNP: rs797045164
rs797045164
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C1850055
Disease:
PEHO syndrome 		A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016