Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.700 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.700 Biomarker disease HPO
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.700 Biomarker disease CTD_human
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 GeneticVariation group BEFREE Therefore, the rs4839469 allele of VANGL1 was obviously associated with NTDs. 24407469 2014
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 GeneticVariation group BEFREE VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish. 20043994 2011
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 Biomarker group BEFREE These findings implicate VANGL1 as a risk factor in human neural-tube defects. 17409324 2007
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 Biomarker group CTD_human These findings implicate VANGL1 as a risk factor in human neural-tube defects. 17409324 2007
CUI: C0300948
Disease: Caudal Regression Syndrome
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 Biomarker group GENOMICS_ENGLAND
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome
0.600 CausalMutation disease CLINVAR
Sacral defect and anterior sacral meningocele
0.600 Biomarker disease GENOMICS_ENGLAND