atrioventricular canal defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (Human Disease Ontology, DOID_0050651)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006695
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Genes

24 genes associated with the atrioventricular canal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCDC22 coiled-coil domain containing 22
CFC1 cripto, FRL-1, cryptic family 1
CHL1 cell adhesion molecule L1-like
CNTN4 contactin 4
CRBN cereblon
CRELD1 cysteine-rich with EGF-like domains 1
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
GJA1 gap junction protein, alpha 1, 43kDa
HYLS1 hydrolethalus syndrome 1
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
NR2F2 nuclear receptor subfamily 2, group F, member 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
TBX5 T-box 5