Skeletal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A general term describing features characterized by abnormal development of bones and connective tissues. (Human Phenotype Ontology, HP_0002652)
External Link https://www.disgenet.org/browser/0/1/0/C0410528
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Genes

182 genes associated with the disease Skeletal Dysplasia in GWAS and other genetic association datasets from the DisGeNET 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
ACVR1 activin A receptor, type I
AFF4 AF4/FMR2 family, member 4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANOS1 anosmin 1
ATF4 activating transcription factor 4
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
C2CD3 C2 calcium-dependent domain containing 3
C3ORF17 chromosome 3 open reading frame 17
CCDC141 coiled-coil domain containing 141
CDH3 cadherin 3, type 1, P-cadherin (placental)
CEP120 centrosomal protein 120kDa
CHD7 chromodomain helicase DNA binding protein 7
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COMP cartilage oligomeric matrix protein
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CTSA cathepsin A
CTSK cathepsin K
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DCC DCC netrin 1 receptor
DCHS1 dachsous cadherin-related 1
DDRGK1 DDRGK domain containing 1
DLL3 delta-like 3 (Drosophila)
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBP emopamil binding protein (sterol isomerase)
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERF Ets2 repressor factor
EXTL3 exostosin-like glycosyltransferase 3
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FEZF1 FEZ family zinc finger 1
FGD3 FYVE, RhoGEF and PH domain containing 3
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FST follistatin
FZD2 frizzled class receptor 2
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSPA9 heat shock 70kDa protein 9 (mortalin)
HSPG2 heparan sulfate proteoglycan 2
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IHH indian hedgehog
IL17RD interleukin 17 receptor D
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIAA0753 KIAA0753
KIF22 kinesin family member 22
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIFR leukemia inhibitory factor receptor alpha
LMX1B LIM homeobox transcription factor 1, beta
LTBP3 latent transforming growth factor beta binding protein 3
MAB21L2 mab-21-like 2 (C. elegans)
MAGEL2 melanoma antigen family L2
MATN1 matrilin 1, cartilage matrix protein
MBTPS1 membrane-bound transcription factor peptidase, site 1
NAGLU N-acetylglucosaminidase, alpha
NANS N-acetylneuraminic acid synthase
NEU1 sialidase 1 (lysosomal sialidase)
NKX3-2 NK3 homeobox 2
NLRC4 NLR family, CARD domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NOTCH2 notch 2
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
P4HB prolyl 4-hydroxylase, beta polypeptide
PDE4D phosphodiesterase 4D, cAMP-specific
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
PGM3 phosphoglucomutase 3
PHYH phytanoyl-CoA 2-hydroxylase
PISD phosphatidylserine decarboxylase
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRMT7 protein arginine methyltransferase 7
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RSPRY1 ring finger and SPRY domain containing 1
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SEC23A Sec23 homolog A (S. cerevisiae)
SEC24D SEC24 family member D
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SF3B4 splicing factor 3b, subunit 4, 49kDa
SGMS2 sphingomyelin synthase 2
SH3PXD2B SH3 and PX domains 2B
SHOX short stature homeobox
SLC10A7 solute carrier family 10, member 7
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX10 SRY (sex determining region Y)-box 10
SOX9 SRY (sex determining region Y)-box 9
SPRY4 sprouty homolog 4 (Drosophila)
STAT1 signal transducer and activator of transcription 1, 91kDa
TACR3 tachykinin receptor 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
THRA thyroid hormone receptor, alpha
TMEM67 transmembrane protein 67
TMEM87B transmembrane protein 87B
TREM2 triggering receptor expressed on myeloid cells 2
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
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
WDR60 WD repeat domain 60
XYLT1 xylosyltransferase I