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.