abnormality of lower limb epiphysis morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of one or more epiphyses of one or both legs. (Human Phenotype Ontology, HP_0006500)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006500
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Genes

28 genes associated with the abnormality of lower limb epiphysis morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ADAMTSL2 ADAMTS-like 2
CDC6 cell division cycle 6
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
DYM dymeclin
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IHH indian hedgehog
KIF22 kinesin family member 22
MATN3 matrilin 3
PCNT pericentrin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
RET ret proto-oncogene
SBDS Shwachman-Bodian-Diamond syndrome
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TBX4 T-box 4
TRAPPC2 trafficking protein particle complex 2
TRPS1 trichorhinophalangeal syndrome I
WISP3 WNT1 inducible signaling pathway protein 3