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 |
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 |
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
|
29343805 |
2018 |
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
|
28892560 |
2017 |
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
|
28892560 |
2017 |
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 |
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 |
MECKEL SYNDROME 12
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MECKEL SYNDROME 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
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 |
Microcephaly
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Meckel syndrome type 1
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
|
29343805 |
2018 |