KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. 30388224 2019
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease UNIPROT Biallelic variants in KIF14 cause intellectual disability with microcephaly. 29343805 2018
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation disease UNIPROT Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 28892560 2017
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. 28892560 2017
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 CausalMutation disease CLINVAR