rs387906799, KIF1A

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.010 GeneticVariation BEFREE A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity. 25253658 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity. 25253658 2014
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
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Cerebellar atrophy, progressive
CUI: C1864929
Disease: Cerebellar atrophy, progressive
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Atrophy of corpus callosum
CUI: C0431370
Disease: Atrophy of corpus callosum
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474 2016
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation CLINVAR De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 CausalMutation CLINVAR De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
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
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
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
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation CLINVAR KIF1A mutation in a patient with progressive neurodegeneration. 25253658 2014
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 CausalMutation CLINVAR KIF1A mutation in a patient with progressive neurodegeneration. 25253658 2014
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
0.700 CausalMutation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 CausalMutation CLINVAR
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
0.700 CausalMutation CLINVAR
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.700 CausalMutation CLINVAR
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
0.700 CausalMutation CLINVAR
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
0.700 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
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