KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601371
rs672601371
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280283
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 GeneticVariation UNIPROT De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038 2015
dbSNP: rs672601371
rs672601371
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280283
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 GeneticVariation UNIPROT De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257 2015
dbSNP: rs672601371
rs672601371
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280283
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 GeneticVariation UNIPROT Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750 2015
dbSNP: rs672601371
rs672601371
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280283
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		0.800 GeneticVariation UNIPROT Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
dbSNP: rs672601371
rs672601371
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C3280283
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		T 0.800 GeneticVariation CLINVAR