pectus excavatum Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance. (Human Phenotype Ontology, HP_0000767)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012514
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Genes

4 gene mutations causing the pectus excavatum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CTGF connective tissue growth factor
FGFRL1 fibroblast growth factor receptor-like 1
RYR1 ryanodine receptor 1 (skeletal)
SOX5 SRY (sex determining region Y)-box 5