talipes calcaneovalgus Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an up and out appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. (Human Phenotype Ontology, HP_0001884)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001884
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Genes

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

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
DHCR7 7-dehydrocholesterol reductase
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMP22 peripheral myelin protein 22
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)