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 Biomarker disease HPO
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 GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.700 Biomarker disease CTD_human
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
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.600 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 Biomarker disease CTD_human
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 Biomarker disease GENOMICS_ENGLAND 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 SusceptibilityMutation disease CLINVAR
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 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		0.310 Biomarker disease CTD_human 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: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007