Spondyloepimetaphyseal Displasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1300260
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Genes

41 genes associated with the disease Spondyloepimetaphyseal Displasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BGN biglycan
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
DCN decorin
DDIT3 DNA-damage-inducible transcript 3
DDR2 discoidin domain receptor tyrosine kinase 2
DDRGK1 DDRGK domain containing 1
DYM dymeclin
EGF epidermal growth factor
EXOC6B exocyst complex component 6B
FGFR3 fibroblast growth factor receptor 3
HAPLN1 hyaluronan and proteoglycan link protein 1
HSPA9 heat shock 70kDa protein 9 (mortalin)
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
KIF22 kinesin family member 22
LONP1 lon peptidase 1, mitochondrial
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NANS N-acetylneuraminic acid synthase
NIN ninein (GSK3B interacting protein)
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PISD phosphatidylserine decarboxylase
PTHLH parathyroid hormone-like hormone
RPL13 ribosomal protein L13
RSPRY1 ring finger and SPRY domain containing 1
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SOX9 SRY (sex determining region Y)-box 9
TONSL tonsoku-like, DNA repair protein
TRIM14 tripartite motif containing 14
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UFSP2 UFM1-specific peptidase 2
VWF von Willebrand factor