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 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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
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 Biomarker group BEFREE This Vangl2(m1Yzcm) mouse represents a valuable model for the study of NTDs in humans. 23359061 2013
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
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 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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
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
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 Biomarker group CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.600 Biomarker group GENOMICS_ENGLAND
CUI: C0002902
Disease: Anencephaly
Anencephaly
0.400 SusceptibilityMutation disease ORPHANET VANGL2 mutations in human cranial neural-tube defects. 20558380 2010
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.400 GeneticVariation disease UNIPROT VANGL2 mutations in human cranial neural-tube defects. 20558380 2010
CUI: C0002902
Disease: Anencephaly
Anencephaly
0.400 Biomarker disease HPO
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis
0.400 Biomarker disease HPO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.400 SusceptibilityMutation disease CLINVAR
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 GeneticVariation disease 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
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 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: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 Biomarker disease BEFREE This could be mediated via heparan sulfate residues, as Vangl2(Lp/+) embryos fail to initiate neural tube closure and develop craniorachischisis (usually seen only in Vangl2(Lp/Lp)) when cultured in the presence of chlorate, a sulfation inhibitor. 23760952 2013
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 GeneticVariation disease BEFREE Mouse models indicate that the homozygous disruption of Sec24b, which mediates the ER-to-Golgi transportation of the core PCP gene Vangl2 as a component of the COPII vesicle, will result in craniorachischisis. 23592378 2013
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 GeneticVariation disease BEFREE The Loop-tail (Lp) mouse that develops craniorachischisis carry missense mutations in the PCP core gene Vangl2, that is the mammalian homolog of the Drosophila Strabismus/Van gogh (Stbm/Vang). 21674647 2012
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
0.350 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990