KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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