skeletal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A general term describing features characterized by abnormal development of bones and connective tissues. (Human Phenotype Ontology, HP_0002652)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002652
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Genes

128 genes associated with the skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACTB actin, beta
ACTG1 actin gamma 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ANKH ANKH inorganic pyrophosphate transport regulator
ANOS1 anosmin 1
ARSB arylsulfatase B
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMPR1B bone morphogenetic protein receptor, type IB
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7 chromodomain helicase DNA binding protein 7
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
COL3A1 collagen, type III, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CTSA cathepsin A
CTSK cathepsin K
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERF Ets2 repressor factor
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FUCA1 fucosidase, alpha-L- 1, tissue
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
HBB hemoglobin, beta
HDAC6 histone deacetylase 6
HESX1 HESX homeobox 1
HMGA2 high mobility group AT-hook 2
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IL17RD interleukin 17 receptor D
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF22 kinesin family member 22
KISS1R KISS1 receptor
LBR lamin B receptor
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NEK1 NIMA-related kinase 1
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
STAC3 SH3 and cysteine rich domain 3
SULF1 sulfatase 1
TACR3 tachykinin receptor 3
TBXAS1 thromboxane A synthase 1 (platelet)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGFB1 transforming growth factor, beta 1
TMEM165 transmembrane protein 165
TRAPPC2 trafficking protein particle complex 2
TREM2 triggering receptor expressed on myeloid cells 2
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TYROBP TYRO protein tyrosine kinase binding protein
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24