calcaneovalgus deformity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0001848
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Genes

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

Symbol Name
COL1A2 collagen, type I, alpha 2
ECEL1 endothelin converting enzyme-like 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
HOXD10 homeobox D10
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
PHGDH phosphoglycerate dehydrogenase
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)