Condition: Congenital Heart Defects


rs727504412 in JAG1 gene and Congenital Heart Defects PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

rs1941023 in LOC105369320 gene and Congenital Heart Defects PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs1176869 in LOC105370467 gene and Congenital Heart Defects PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs146189703 in LOC105377552 gene and Congenital Heart Defects PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs66678247 in LOC107986115 gene and Congenital Heart Defects PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs11895588 in LRP1B gene and Congenital Heart Defects PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs1531070 in MAML3 gene and Congenital Heart Defects PMID 23708190 2013 A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.

rs397516908 in NKX2-5 gene and Congenital Heart Defects PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

PMID 9651244 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5.

rs870142 in STX18-AS1 gene and Congenital Heart Defects PMID 23708191 2013 Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.