Disease: Spina Bifida ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.030 GeneticVariation disease BEFREE Of the six NTD cases, three spina bifida cases and one anencephaly case carried digenic variants in the CELSR1 and SCRIB gene; one anencephaly case carried variants in the CELSR1 and DVL3 gene; and one spina bifida case carried variants in the PTK7 and SCRIB genes. 29573971 2018
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.030 GeneticVariation disease BEFREE Interestingly, we demonstrated patients with CELSR1 mutations and spina bifida can have significant renal malformations. 27597235 2016
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.030 GeneticVariation disease BEFREE Our findings suggest that CELSR1 mutations contribute to the risk of spina bifida in a cohort of spina bifida patients from California. 24632739 2014