Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Interestingly, we demonstrated patients with CELSR1 mutations and spina bifida can have significant renal malformations. 27597235 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE Our findings implicate CELSR1 as a risk factor for NTDs or caudal agenesis and provide additional evidence for a pathogenic role of PCP signaling in these malformations. 22371354 2012