KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		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 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: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 GermlineCausalMutation disease ORPHANET Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 24128419 2014
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 24128419 2014
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 CausalMutation disease CLINVAR
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4693572
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 CausalMutation disease CLINVAR
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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 Biomarker disease BEFREE To the best of our knowledge, this is the first report that has identified the molecular target and oncogenic effect of KIF14 in HCC. 24854087 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 AlteredExpression disease BEFREE We demonstrated that Sox17 is negatively related to KIF14 expression in HCC tissue and Sox17 inhibits HCC cell proliferation and migration by transcriptional downregulation of KIF14 expression. 25106407 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 Biomarker disease BEFREE Therefore, our current study indicates that KIF14 promotes HCC carcinogenesis and may serve as a potential therapeutic target for human HCC. 23414349 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.340 AlteredExpression disease BEFREE Among genes in the recurrently gained regions on 1q, expression of KIF14 and TPM3 was significantly increased, suggesting their oncogenic potential in HCC. 18803288 2008
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation disease ORPHANET We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu88*, c.2480_2482delTTG; p.Val827del, and c.4071G>A;p.Gln1357=) as the likely cause in 3 MCPH families. 28892560 2017
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GeneticVariation disease BEFREE We identified homozygous mutations in KIF14 (NM_014875.2;c.263T>A;pLeu88*, c.2480_2482delTTG; p.Val827del, and c.4071G>A;p.Gln1357=) as the likely cause in 3 MCPH families. 28892560 2017
CUI: C4230888
Disease: Intrauterine growth restriction (IUGR)
Intrauterine growth restriction (IUGR) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. 24128419 2014
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Biallelic variants in KIF14 cause intellectual disability with microcephaly. 29343805 2018