KIF2A, kinesin family member 2A, 3796

N. diseases: 81; N. variants: 29
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777033
rs587777033
Entrez Id: 3796;27292
Gene Symbol: KIF2A;DIMT1
KIF2A;DIMT1
CUI: C3809414
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.800 GeneticVariation UNIPROT Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. 23603762 2013
dbSNP: rs587777033
rs587777033
Entrez Id: 3796;27292
Gene Symbol: KIF2A;DIMT1
KIF2A;DIMT1
CUI: C3809414
Disease:
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		G 0.800 CausalMutation CLINVAR