club-shaped distal femur Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. (Human Phenotype Ontology, HP_0006384)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006384
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Genes

2 genes associated with the club-shaped distal femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANKH ANKH inorganic pyrophosphate transport regulator
GJA1 gap junction protein, alpha 1, 43kDa