aplasia/hypoplasia of the capital femoral epiphysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the proximal epiphysis of the femur. (Human Phenotype Ontology, HP_0005003)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005003
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11 genes associated with the aplasia/hypoplasia of the capital femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CDC6 cell division cycle 6
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
IFT140 intraflagellar transport 140
KIF22 kinesin family member 22
MATN3 matrilin 3
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRAPPC2 trafficking protein particle complex 2