rs587777035
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777035
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777035
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777035
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
A
0.800
CausalMutation
CLINVAR
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
0.800
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978
2012
rs587777035
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
T
0.800
CausalMutation
CLINVAR
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs587777570
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs1331505548
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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
rs1331505548
×
Entrez Id:
3800
Gene Symbol:
KIF5C
KIF5C
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