madelung deformity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. (Human Phenotype Ontology, HP_0003067)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003067
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Genes

6 genes associated with the madelung deformity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
NIN ninein (GSK3B interacting protein)
SHOX short stature homeobox