Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 Biomarker BEFREE Through a large-candidate gene-sequencing screen in patients with atrioventricular septal defects, substitutions were identified in bone morphogenetic protein (BMP) type I receptor ALK2 and two other genes in a patient with DS and a primum-type atrial septal defect. 21248739

2011