Disease: Neural Tube Defects ×
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 		0.030 GeneticVariation group BEFREE During the validation stage, the number of rare loss of function (LoF) variants in CELSR1 was significantly enriched in NTDs compared with the LoF counts in the ExAC database (p < 0.001). 29618362 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.030 Biomarker group BEFREE Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 22095531 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.030 GeneticVariation group BEFREE We detected novel CELSR1 mutations predicted to be pathogenic in 2.9% of our NTD cohort and 3.3% of our caudal agenesis cohort. 22371354 2012