Hemimelia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. (Orphanet Rare Disease Ontology, Orphanet_2130)
External Link https://www.disgenet.org/browser/0/1/0/C0018987
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Genes

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

Symbol Name
BHLHA9 basic helix-loop-helix family, member a9
GLI2 GLI family zinc finger 2
PGD phosphogluconate dehydrogenase