KIF2A, kinesin family member 2A, 3796

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