complete atrioventricular canal defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. (Human Phenotype Ontology, HP_0001674)
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19 genes associated with the complete atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCDC22 coiled-coil domain containing 22
CHL1 cell adhesion molecule L1-like
CNTN4 contactin 4
CRBN cereblon
DHCR7 7-dehydrocholesterol reductase
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FLNA filamin A, alpha
FOXF1 forkhead box F1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA4 GATA binding protein 4
GDF1 growth differentiation factor 1
HYLS1 hydrolethalus syndrome 1
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
TBX5 T-box 5