Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 AlteredExpression disease BEFREE STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. 12060845 2002
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 AlteredExpression disease BEFREE STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. 12060845 2002
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. 12060845 2002
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
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		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 GENOMICS_ENGLAND
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 Biomarker disease GENOMICS_ENGLAND Mutations in VANGL1 associated with neural-tube defects. 17409324 2007
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 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: 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