truncus arteriosus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. (Human Phenotype Ontology, HP_0001660)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001660
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Genes

16 genes associated with the truncus arteriosus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BCR breakpoint cluster region
CFC1 cripto, FRL-1, cryptic family 1
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
MAPK1 mitogen-activated protein kinase 1
NEK8 NIMA-related kinase 8
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
STRA6 stimulated by retinoic acid 6
TBX1 T-box 1
UFD1L ubiquitin fusion degradation 1 like (yeast)