abnormal conotruncus morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the distal portion of the bulbus cordis that will give rise to the conus cordis, which will give rise to the outflow regions of the ventricles, and the truncus arteriosus which will be divided into proximal ends of the ascending aorta and pulmonary trunk (Mammalian Phenotype Ontology, MP_0010583)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010583
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Genes

15 gene mutations causing the abnormal conotruncus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BMP10 bone morphogenetic protein 10
FGFR2 fibroblast growth factor receptor 2
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
HHEX hematopoietically expressed homeobox
HSPG2 heparan sulfate proteoglycan 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
RXRA retinoid X receptor, alpha
SOX4 SRY (sex determining region Y)-box 4
SSR1 signal sequence receptor, alpha
TBX1 T-box 1
TBX2 T-box 2
TLL1 tolloid-like 1
VCAN versican