Condition: Patent ductus arteriosus


rs1057516044 in ABCC9 gene and Patent ductus arteriosus PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs867410737 in ATP5F1D gene and Patent ductus arteriosus PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1555639411 in BPTF gene and Patent ductus arteriosus PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs587779349 in BRCA2 gene and Patent ductus arteriosus PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587777710 in GATA6 gene and Patent ductus arteriosus PMID 24385578 2014 The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

rs1135401744 in KYNU gene and Patent ductus arteriosus PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs121918460 in PTPN11 gene and Patent ductus arteriosus PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.