Calcaneovalgus Deformity Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). (Human Phenotype Ontology, HP_0001848)
External Link https://www.disgenet.org/browser/0/1/0/C1860450
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Genes

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

Symbol Name
ADAMTSL1 ADAMTS-like 1
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
COL1A2 collagen, type I, alpha 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
HOXD10 homeobox D10
MTOR mechanistic target of rapamycin (serine/threonine kinase)
PHGDH phosphoglycerate dehydrogenase
POLD4 polymerase (DNA-directed), delta 4, accessory subunit
POLE4 polymerase (DNA-directed), epsilon 4, accessory subunit
TNNI2 troponin I type 2 (skeletal, fast)
TPM2 tropomyosin 2 (beta)