Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.330 Biomarker disease BEFREE Vangl2 disruption alters the biomechanics of late spinal neurulation leading to spina bifida in mouse embryos. 29590636 2018
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.330 GeneticVariation disease BEFREE Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. 30189017 2018
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.330 Biomarker 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: C0080178
Disease: Spina Bifida
Spina Bifida 		0.330 Biomarker disease CTD_human A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. 21404367 2011
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		0.300 Biomarker disease CTD_human A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. 21404367 2011
CUI: C0266508
Disease: Rachischisis
Rachischisis 		0.300 Biomarker disease CTD_human A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. 21404367 2011
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET Contribution of VANGL2 mutations to isolated neural tube defects. 20738329 2011
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human Cranial effects of retinoic acid in the loop-tail (Lp) mutant mouse. 2373757 1990
CUI: C1845026
Disease: Neural tube defects X-linked
Neural tube defects X-linked 		0.200 Biomarker disease MGD Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. 9545534 1998
CUI: C1845027
Disease: Spina Bifida, X-Linked
Spina Bifida, X-Linked 		0.200 Biomarker disease MGD Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. 9545534 1998
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.200 Biomarker disease MGD Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. 9545534 1998
CUI: C1866559
Disease: Spina Bifida, Folate-Sensitive
Spina Bifida, Folate-Sensitive 		0.200 Biomarker disease MGD Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. 9545534 1998
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.110 Biomarker disease BEFREE PCP rare putative mutations had a weaker role in myelomeningocele (SB), being found in approximately 6% of cases and cumulated across CELSR1, FUZ, FZD6, PRICKLE1, VANGL1, and VANGL2. 23024041 2012
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO
CUI: C0023798
Disease: Lipoma
Lipoma 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO