KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601369
rs672601369
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280168
Disease:
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		T 0.700 CausalMutation CLINVAR De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257 2015
dbSNP: rs672601369
rs672601369
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280168
Disease:
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		T 0.700 CausalMutation CLINVAR De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038 2015