Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741916
Disease: Cardiac defects
Cardiac defects
0.010 GeneticVariation group BEFREE PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the STRA6 gene in some of these patients. 22686418 2013