KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Disease: Microcephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777034
rs587777034
Entrez Id: 3796;27292
Gene Symbol: KIF2A;DIMT1
KIF2A;DIMT1
CUI: C0025958
Disease:
Microcephaly 		0.010 GeneticVariation BEFREE Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. 27747449 2017