Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse. 22267179 2012