Sacral agenesis
|
0.700 |
SusceptibilityMutation
|
disease |
ORPHANET |
Mutations in VANGL1 associated with neural-tube defects.
|
17409324 |
2007 |
Sacral agenesis
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Sacral agenesis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Sacral agenesis
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization.
|
28369449 |
2017 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The single nucleotide polymorphism (SNP) of the vangl1 gene is highly correlated with Neural Tube Defects (NTDs), a group of severe congenital malformations.
|
26914375 |
2016 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His, that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases.
|
25208524 |
2015 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Of interest are two arginine residues, R181 and R274, that are highly conserved in Vangl protein homologues and found to be independently mutated in VANGL1 (R181Q and R274Q) and VANGL2 (R177H and R270H) in human cases of NTDs.
|
25068569 |
2014 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs.
|
24407469 |
2014 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
In 48 children with a neural tube defect and 62 controls from a Dutch case-control study and 34 children with a neural tube defect and 78 controls from a Texan case-control study, we measured the DNA-methylation levels of imprinted candidate genes (IGF2-DMR, H19, KCNQ1OT1) and non-imprinted genes (the LEKR/CCNL gene region associated with birth weight, and MTHFR and VANGL1 associated with NTD).
|
24223810 |
2013 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Recently, however, pathogenic mutations of VANGL1 and VANGL2 genes have been associated with some cases of human NTDs.
|
21840926 |
2011 |
Neural Tube Defects
|
0.600 |
GeneticVariation
|
group |
BEFREE |
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.
|
20043994 |
2011 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs.
|
19319979 |
2009 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
CTD_human |
This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs.
|
19319979 |
2009 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in VANGL1 in neural tube defects.
|
19319979 |
2009 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
BEFREE |
These findings implicate VANGL1 as a risk factor in human neural-tube defects.
|
17409324 |
2007 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
CTD_human |
These findings implicate VANGL1 as a risk factor in human neural-tube defects.
|
17409324 |
2007 |
Caudal Regression Syndrome
|
0.600 |
SusceptibilityMutation
|
disease |
ORPHANET |
Mutations in VANGL1 associated with neural-tube defects.
|
17409324 |
2007 |
Sacral defect and anterior sacral meningocele
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in VANGL1 associated with neural-tube defects.
|
17409324 |
2007 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in VANGL1 associated with neural-tube defects.
|
17409324 |
2007 |
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in VANGL1 associated with neural-tube defects.
|
17409324 |
2007 |
Neural Tube Defects
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Caudal Regression Syndrome
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Caudal Regression Syndrome
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Sacral defect and anterior sacral meningocele
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|