Condition: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
rs121912626
in
CRELD1
gene and
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
PMID 12632326
2003 Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
PMID 15857420
2005 Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).