abnormality of the costochondral junction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. (Human Phenotype Ontology, HP_0000919)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000919
Similar Terms
Downloads & Tools


11 genes associated with the abnormality of the costochondral junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
CTNS cystinosin, lysosomal cystine transporter
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
FGFR3 fibroblast growth factor receptor 3
NOG noggin
SBDS Shwachman-Bodian-Diamond syndrome
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor