KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 GeneticVariation disease BEFREE Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. 30388224 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease BEFREE Our results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and microcephaly. 29343805 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease GENOMICS_ENGLAND KIF14 may also be considered a candidate gene for allelic viable ciliary and/or microcephaly phenotypes. 24128419 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.420 Biomarker disease HPO