Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish. 20043994 2011
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 GeneticVariation disease UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 GeneticVariation disease UNIPROT Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 GeneticVariation disease UNIPROT Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.310 GeneticVariation disease BEFREE In mice, homozygosity for mutations in the Vangl1 and Vangl2 genes or combined heterozygosity for Vangl1/Vangl2 mutations causes the very severe neural tube defect (NTD) craniorachischisis. 25068569 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.070 GeneticVariation group BEFREE Circular RNA VANGL1 (circVANGL1) is generated from two exons of the Van Gogh-like 1 (VANGL1) gene and serves as a tumor promoter by sponging certain microRNAs (miRNAs). 31758655 2020
CUI: C0038379
Disease: Strabismus
Strabismus 		0.040 GeneticVariation disease BEFREE Serine-rich domain and Strabismus-homology (STH1 and STH2) domains are conserved among human STB1, STB2, Xenopus Stbm, and Drosophila Stbm. 12060845 2002
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		0.010 GeneticVariation disease BEFREE We analyzed the coding region of the VANGL1 gene for mutations using Sanger sequencing in 157 unrelated patients with moderate to severe AIS. 27755493 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 GeneticVariation disease BEFREE We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. 19319979 2009
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 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 GENOMICS_ENGLAND
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 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 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 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 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