Madelung Deformity Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0152441
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Genes

8 genes associated with the disease Madelung Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ASXL3 additional sex combs like transcriptional regulator 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
NIN ninein (GSK3B interacting protein)
SHOX short stature homeobox