KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease GENOMICS_ENGLAND A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. 27896282 2016
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 GeneticVariation disease UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 Biomarker disease CTD_human
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 CausalMutation disease CLINVAR
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 GeneticVariation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 Biomarker disease BEFREE Thus, modeling microcephaly with cerebral organoids and mice reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly, disruption of which contributes to microcephaly. 31197141 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 GeneticVariation disease BEFREE Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. 29077851 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 GeneticVariation disease BEFREE This report also establishes that KIF2A mutations represent significant causes of classic lissencephaly with microcephaly. 27747449 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 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 		0.430 Biomarker disease HPO
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: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.400 Biomarker disease HPO
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.310 Biomarker disease BEFREE Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development. 29077851 2018
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		0.310 Biomarker disease CTD_human Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE Our results demonstrate that the KIF2 gene, located at 5q12.1, is a potential schizophrenia susceptibility gene. 16959419 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Our results demonstrate that the KIF2 gene, located at 5q12.1, is a potential schizophrenia susceptibility gene. 16959419 2006
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: C0266483
Disease: Pachygyria
Pachygyria 		0.110 GeneticVariation disease BEFREE Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. 29077851 2018
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.110 GeneticVariation disease CLINVAR
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR