KIF1A, kinesin family member 1A, 547

N. diseases: 11; N. variants: 44
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		0.610 Biomarker disease GENOMICS_ENGLAND Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 28362824 2017
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		0.610 Biomarker disease GENOMICS_ENGLAND De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257 2015
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		0.610 Biomarker disease GENOMICS_ENGLAND KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098 2011
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		0.610 Biomarker disease GENOMICS_ENGLAND KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098 2011
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		0.610 Biomarker disease CTD_human