Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 Biomarker disease CTD_human
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		0.500 Biomarker phenotype CTD_human
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		0.500 Biomarker phenotype GENOMICS_ENGLAND
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: 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 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		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 Novel mutations in VANGL1 in neural tube defects. 19319979 2009
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: C0266453
Disease: Exencephaly
Exencephaly 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human Novel mutations in VANGL1 in neural tube defects. 19319979 2009
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET 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 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: C0152234
Disease: Iniencephaly
Iniencephaly 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0266453
Disease: Exencephaly
Exencephaly 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C0702169
Disease: Acrania
Acrania 		0.300 Biomarker disease CTD_human Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C1867774
Disease: Sacral Agenesis Syndrome
Sacral Agenesis Syndrome 		0.300 SusceptibilityMutation phenotype ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		0.300 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
CUI: C2609260
Disease: Caudal dysplasia syndrome
Caudal dysplasia syndrome 		0.300 SusceptibilityMutation disease ORPHANET Mutations in VANGL1 associated with neural-tube defects. 17409324 2007