spondyloepimetaphyseal dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (Human Disease Ontology, DOID_0080027)
Similar Terms
Downloads & Tools

Genes

44 genes co-occuring with the disease spondyloepimetaphyseal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 2.48582
COL2A1 collagen, type II, alpha 1 2.47421
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 2.41086
DYM dymeclin 2.38248
KIF22 kinesin family member 22 1.7546
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 1.59072
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.58492
RAB33B RAB33B, member RAS oncogene family 1.3821
MATN3 matrilin 3 1.37207
GALNS galactosamine (N-acetyl)-6-sulfatase 1.26386
COMP cartilage oligomeric matrix protein 1.17035
POLE2 polymerase (DNA directed), epsilon 2, accessory subunit 1.16692
EPYC epiphycan 1.08705
COL10A1 collagen, type X, alpha 1 1.03409
LAX1 lymphocyte transmembrane adaptor 1 0.97254
ACAN aggrecan 0.870825
COL9A3 collagen, type IX, alpha 3 0.842573
TRPV4 transient receptor potential cation channel, subfamily V, member 4 0.828229
FGFR3 fibroblast growth factor receptor 3 0.817565
COL9A2 collagen, type IX, alpha 2 0.715618
CCNB2 cyclin B2 0.701928
NIN ninein (GSK3B interacting protein) 0.689893
CSPG4 chondroitin sulfate proteoglycan 4 0.680297
MMP13 matrix metallopeptidase 13 0.66914
MATN1 matrilin 1, cartilage matrix protein 0.634349
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.627672
COL11A2 collagen, type XI, alpha 2 0.627672
CNTLN centlein, centrosomal protein 0.620617
DDR2 discoidin domain receptor tyrosine kinase 2 0.613574
SLC26A2 solute carrier family 26 (anion exchanger), member 2 0.608494
DCN decorin 0.577327
COL11A1 collagen, type XI, alpha 1 0.566831
ASPN asporin 0.531541
COL3A1 collagen, type III, alpha 1 0.403811
IHH indian hedgehog 0.372217
PLP1 proteolipid protein 1 0.319363
HTRA1 HtrA serine peptidase 1 0.317909
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.276514
FLNA filamin A, alpha 0.180367
COL1A1 collagen, type I, alpha 1 0.168617
RNASEH2A ribonuclease H2, subunit A 0.142348
RUNX2 runt-related transcription factor 2 0.127755
COL1A2 collagen, type I, alpha 2 0.126764
GGT2 gamma-glutamyltransferase 2 0.124159