Pseudoachondroplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_0080047)
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Genes

117 genes co-occuring with the disease Pseudoachondroplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
COMP cartilage oligomeric matrix protein 3.819
MATN3 matrilin 3 2.969
COL9A3 collagen, type IX, alpha 3 2.774
COL9A2 collagen, type IX, alpha 2 2.771
COL9A1 collagen, type IX, alpha 1 2.625
SLC26A2 solute carrier family 26 (anion exchanger), member 2 2.508
ACAN aggrecan 2.486
COL2A1 collagen, type II, alpha 1 2.252
COL10A1 collagen, type X, alpha 1 2.208
ADAMTS7 ADAM metallopeptidase with thrombospondin type 1 motif, 7 2.19
THBS3 thrombospondin 3 2.126
THBS4 thrombospondin 4 2.007
PDIA4 protein disulfide isomerase family A, member 4 1.998
FGFR3 fibroblast growth factor receptor 3 1.915
ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif, 12 1.907
TRAPPC2 trafficking protein particle complex 2 1.84
CREB3L2 cAMP responsive element binding protein 3-like 2 1.806
COL11A1 collagen, type XI, alpha 1 1.799
NKX3-2 NK3 homeobox 2 1.79
CALML6 calmodulin-like 6 1.785
CALML4 calmodulin-like 4 1.785
CALML3 calmodulin-like 3 1.783
CALML5 calmodulin-like 5 1.782
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.754
CRELD2 cysteine-rich with EGF-like domains 2 1.7
FN1 fibronectin 1 1.693
DCN decorin 1.689
COL11A2 collagen, type XI, alpha 2 1.688
THBS2 thrombospondin 2 1.663
RSPRY1 ring finger and SPRY domain containing 1 1.626
EGF epidermal growth factor 1.609
FMOD fibromodulin 1.603
HAPLN1 hyaluronan and proteoglycan link protein 1 1.584
TRPV4 transient receptor potential cation channel, subfamily V, member 4 1.577
SHOX short stature homeobox 1.567
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 1.558
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 1.555
COL1A1 collagen, type I, alpha 1 1.554
GRN granulin 1.527
ATF6 activating transcription factor 6 1.525
HSPG2 heparan sulfate proteoglycan 2 1.524
ERO1B endoplasmic reticulum oxidoreductase 1 beta 1.507
CANX calnexin 1.477
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 1.475
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 1.443
TRIP11 thyroid hormone receptor interactor 11 1.44
COL27A1 collagen, type XXVII, alpha 1 1.427
NPR2 natriuretic peptide receptor 2 1.427
MMP13 matrix metallopeptidase 13 1.415
XBP1 X-box binding protein 1 1.405
THBS1 thrombospondin 1 1.385
BMP2 bone morphogenetic protein 2 1.381
IHH indian hedgehog 1.377
GALNS galactosamine (N-acetyl)-6-sulfatase 1.366
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 1.355
MANF mesencephalic astrocyte-derived neurotrophic factor 1.344
PRELP proline/arginine-rich end leucine-rich repeat protein 1.342
PRG4 proteoglycan 4 1.342
DDIT3 DNA-damage-inducible transcript 3 1.31
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3 1.303
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 1.296
PDIA6 protein disulfide isomerase family A, member 6 1.294
CALR calreticulin 1.293
SOX9 SRY (sex determining region Y)-box 9 1.282
MATN1 matrilin 1, cartilage matrix protein 1.28
COL1A2 collagen, type I, alpha 2 1.274
SEC23A Sec23 homolog A (S. cerevisiae) 1.267
ZBTB7A zinc finger and BTB domain containing 7A 1.252
OMD osteomodulin 1.251
SON SON DNA binding protein 1.249
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 1.236
MBTPS1 membrane-bound transcription factor peptidase, site 1 1.233
SPP1 secreted phosphoprotein 1 1.231
NPPC natriuretic peptide C 1.23
COL5A1 collagen, type V, alpha 1 1.228
CCN6 cellular communication network factor 6 1.227
BGN biglycan 1.22
ECM1 extracellular matrix protein 1 1.215
PTHLH parathyroid hormone-like hormone 1.206
RUNX2 runt-related transcription factor 2 1.203
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6 1.201
OSBPL2 oxysterol binding protein-like 2 1.189
DYM dymeclin 1.164
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 1.163
SOX5 SRY (sex determining region Y)-box 5 1.16
CER1 cerberus 1, DAN family BMP antagonist 1.157
ZNF385C zinc finger protein 385C 1.156
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 1.153
TGFB1 transforming growth factor, beta 1 1.148
VWF von Willebrand factor 1.146
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.135
COL18A1 collagen, type XVIII, alpha 1 1.135
GDF5 growth differentiation factor 5 1.123
MID1 midline 1 1.122
IBSP integrin-binding sialoprotein 1.122
FBN1 fibrillin 1 1.111
CILP2 cartilage intermediate layer protein 2 1.102
TMEM38B transmembrane protein 38B 1.102
PTH1R parathyroid hormone 1 receptor 1.099
TNC tenascin C 1.098
SEC23B Sec23 homolog B (S. cerevisiae) 1.097
LRR1 leucine rich repeat protein 1 1.09
POSTN periostin, osteoblast specific factor 1.081
ADAMTS16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 1.077
FBN2 fibrillin 2 1.07
CREB3L1 cAMP responsive element binding protein 3-like 1 1.054
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 1.049
ARL1 ADP-ribosylation factor-like 1 1.048
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.042
MMP3 matrix metallopeptidase 3 1.041
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 1.041
P4HB prolyl 4-hydroxylase, beta polypeptide 1.03
DERL3 derlin 3 1.025
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 1.021
DNAJB11 DnaJ (Hsp40) homolog, subfamily B, member 11 1.01
PHEX phosphate regulating endopeptidase homolog, X-linked 1.006
KLHL26 kelch-like family member 26 1.003