KIF5C, kinesin family member 5C, 3800

N. diseases: 33; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. 29048727 2017
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 GeneticVariation disease UNIPROT Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. 29048727 2017
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 CausalMutation disease CLINVAR Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 24812067 2014
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 GeneticVariation disease UNIPROT Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. 24812067 2014
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 CausalMutation disease CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
CUI: C3809013
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 		0.700 Biomarker disease CTD_human
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.300 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO