ostium primum atrial septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. (Human Phenotype Ontology, HP_0010445)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010404
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Genes

12 gene mutations causing the ostium primum atrial septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BMP4 bone morphogenetic protein 4
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CYR61 cysteine-rich, angiogenic inducer, 61
EPHA3 EPH receptor A3
FBLN1 fibulin 1
FLNA filamin A, alpha
GJA5 gap junction protein, alpha 5, 40kDa
RYR1 ryanodine receptor 1 (skeletal)
TBX5 T-box 5
TGFB2 transforming growth factor, beta 2
TLL1 tolloid-like 1
ZFPM2 zinc finger protein, FOG family member 2