KIF5C, kinesin family member 5C, 3800

N. diseases: 33; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777035
rs587777035
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. 29048727 2017
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. 29048727 2017
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
A 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs587777035
rs587777035
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 24812067 2014
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
A 0.800 CausalMutation CLINVAR Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 24812067 2014
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 24812067 2014
dbSNP: rs587777035
rs587777035
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs587777035
rs587777035
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
A 0.800 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs587777035
rs587777035
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3809013
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C3714756
Disease:
Intellectual Disability
0.010 GeneticVariation BEFREE A female patient with a de novo missense mutation in KIF5C (c.11465A>C; p.(Glu237Lys)) presented with severe ID, epilepsy, microcephaly and cortical malformation. 24812067 2014
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C0302142
Disease:
Deformity
0.010 GeneticVariation BEFREE A female patient with a de novo missense mutation in KIF5C (c.11465A>C; p.(Glu237Lys)) presented with severe ID, epilepsy, microcephaly and cortical malformation. 24812067 2014
dbSNP: rs587777570
rs587777570
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C0000768
Disease:
Congenital Abnormality
0.010 GeneticVariation BEFREE A female patient with a de novo missense mutation in KIF5C (c.11465A>C; p.(Glu237Lys)) presented with severe ID, epilepsy, microcephaly and cortical malformation. 24812067 2014
dbSNP: rs1331505548
rs1331505548
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C0037772
Disease:
Spastic Paraplegia
0.010 GeneticVariation BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432 2012
dbSNP: rs1331505548
rs1331505548
Entrez Id: 3800
Gene Symbol: KIF5C
KIF5C
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura
0.010 GeneticVariation BEFREE Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model. 23209432 2012