abnormality of 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 a limb. (Human Phenotype Ontology, HP_0006505)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006505
Similar Terms
Downloads & Tools

Genes

50 genes associated with the abnormality of 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
ATR ATR serine/threonine kinase
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
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
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
GNPAT glyceronephosphate O-acyltransferase
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IHH indian hedgehog
KIF22 kinesin family member 22
MATN3 matrilin 3
MGP matrix Gla protein
NKX3-2 NK3 homeobox 2
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB23 RAB23, member RAS oncogene family
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
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
SRCAP Snf2-related CREBBP activator protein
TBX4 T-box 4
TRAPPC2 trafficking protein particle complex 2
TRPS1 trichorhinophalangeal syndrome I
WISP3 WNT1 inducible signaling pathway protein 3