Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 GeneticVariation group BEFREE Protein tyrosine kinase 7 (Ptk7) was shown to cause a very severe form of NTDs called craniorachischisis in a mouse model and genetically interacts with a core PCP member Vangl2 where double heterozygotes suffer from spina bifida. 26368655 2015
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group BEFREE The planar cell polarity (PCP) genes CELSR1, CELSR2, VANGL1, and VANGL2 have been implicated in NTD; these genes have roles in neural tube closure and ependymal ciliary movement. 26227058 2015
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 GeneticVariation group BEFREE Here, we present the results of VANGL1 and VANGL2 mutational screening in a series of 53 NTD patients and 27 couples with a previous NTD affected pregnancy. 25208524 2015
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 GeneticVariation group BEFREE We also show that Lrp6(Skax26-Jus) genetically interacts with a PCP mutant (Vangl2(Lp)) where double heterozygotes showed an increased frequency of NTDs and defects in cochlear hair cells' polarity. 24203697 2014
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.600 GeneticVariation group BEFREE Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs. 24407469 2014
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group BEFREE This Vangl2(m1Yzcm) mouse represents a valuable model for the study of NTDs in humans. 23359061 2013
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 GeneticVariation group BEFREE Mutations in the Planar Cell Polarity (PCP) core gene Vangl2 cause the most severe neural tube defects (NTD) in mice and humans. 23029439 2012
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group BEFREE Although limited genetic interaction for NTDs was seen with Vangl2, a microarray analysis of PCP genes did not reveal a direct connection to this pathway. 21246654 2011
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group BEFREE Our findings strongly implicate VANGL2 in the genetic causation of spinal NTDs in a subset of patients and provide additional evidence for a pathogenic role of PCP signaling in these malformations. 20738329 2011
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.600 GeneticVariation group BEFREE VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish. 20043994 2011
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 GeneticVariation group BEFREE Loop-tail (Lp) mice show a very severe neural tube defect (craniorachischisis) caused by mutations in the Vangl2 gene (D255E, S464N). 20329788 2010
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
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
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.600 Biomarker group BEFREE These findings implicate VANGL1 as a risk factor in human neural-tube defects. 17409324 2007
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
0.600 Biomarker group CTD_human These findings implicate VANGL1 as a risk factor in human neural-tube defects. 17409324 2007
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
0.600 Biomarker group GENOMICS_ENGLAND