inlet ventricular septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description .A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. (Human Phenotype Ontology, HP_0011622)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010419
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Genes

3 gene mutations causing the inlet ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CEP290 centrosomal protein 290kDa
GPC3 glypican 3
TGFB2 transforming growth factor, beta 2