pseudoachondroplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

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

Symbol Name Standardized Value
COMP cartilage oligomeric matrix protein 3.35903
MATN3 matrilin 3 1.99641
COL9A2 collagen, type IX, alpha 2 1.70998
COL9A3 collagen, type IX, alpha 3 1.64307
COL9A1 collagen, type IX, alpha 1 1.41621
ACAN aggrecan 1.33807
THBS3 thrombospondin 3 1.31144
CALM3 calmodulin 3 (phosphorylase kinase, delta) 1.19877
CALM2 calmodulin 2 (phosphorylase kinase, delta) 1.19834
CALM1 calmodulin 1 (phosphorylase kinase, delta) 1.19143
COL2A1 collagen, type II, alpha 1 1.13374
MATN4 matrilin 4 1.08915
COL10A1 collagen, type X, alpha 1 0.91308
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.861818
COL11A2 collagen, type XI, alpha 2 0.861409
SON SON DNA binding protein 0.86059
SLC26A2 solute carrier family 26 (anion exchanger), member 2 0.841753
LAX1 lymphocyte transmembrane adaptor 1 0.840934
FMOD fibromodulin 0.829869
FGFR3 fibroblast growth factor receptor 3 0.821667
COL11A1 collagen, type XI, alpha 1 0.797462
DCLK3 doublecortin-like kinase 3 0.782707
GALNS galactosamine (N-acetyl)-6-sulfatase 0.724098
SDC3 syndecan 3 0.718039
DCN decorin 0.665563
P4HB prolyl 4-hydroxylase, beta polypeptide 0.655254
TRIM47 tripartite motif containing 47 0.634742
ZBTB7A zinc finger and BTB domain containing 7A 0.631205
SOX5 SRY (sex determining region Y)-box 5 0.616312
NCAN neurocan 0.559062
MATN1 matrilin 1, cartilage matrix protein 0.521502
PPP1R15A protein phosphatase 1, regulatory subunit 15A 0.514186
DDIT3 DNA-damage-inducible transcript 3 0.437906
SHOX short stature homeobox 0.412031
GYPA glycophorin A (MNS blood group) 0.406425
BMP2 bone morphogenetic protein 2 0.350452
TNC tenascin C 0.327375
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.326646
CD47 CD47 molecule 0.305226
IL32 interleukin 32 0.299452
CANX calnexin 0.299092
FSCN3 fascin actin-bundling protein 3, testicular 0.284013
FSCN2 fascin actin-bundling protein 2, retinal 0.25877
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 0.253127
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 0.249257
ILK integrin-linked kinase 0.209918
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.17896
FSCN1 fascin actin-bundling protein 1 0.174617
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.169812
NOX4 NADPH oxidase 4 0.163729