diastrophic dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_14687)
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Genes

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

Symbol Name Standardized Value
SLC26A2 solute carrier family 26 (anion exchanger), member 2 3.58093
SLC26A8 solute carrier family 26 (anion exchanger), member 8 1.98343
SLC26A3 solute carrier family 26 (anion exchanger), member 3 1.89824
SLC26A11 solute carrier family 26 (anion exchanger), member 11 1.56356
SLC26A7 solute carrier family 26 (anion exchanger), member 7 1.47242
SLC26A5 solute carrier family 26 (anion exchanger), member 5 1.45572
COMP cartilage oligomeric matrix protein 1.43244
SLC26A9 solute carrier family 26 (anion exchanger), member 9 1.39608
SLC26A6 solute carrier family 26 (anion exchanger), member 6 1.35768
COL9A2 collagen, type IX, alpha 2 1.31362
SLC13A2 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 1.31319
COL9A3 collagen, type IX, alpha 3 1.20526
MATN3 matrilin 3 1.18152
CANT1 calcium activated nucleotidase 1 1.16392
SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 1.15794
RPS14 ribosomal protein S14 1.11856
SLC26A4 solute carrier family 26 (anion exchanger), member 4 1.08915
SLC26A1 solute carrier family 26 (anion exchanger), member 1 1.03325
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 0.960797
MATR3 matrin 3 0.916375
PDGFRB platelet-derived growth factor receptor, beta polypeptide 0.90321
COL2A1 collagen, type II, alpha 1 0.853631
CSF1R colony stimulating factor 1 receptor 0.831508
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.807308
ADRA1B adrenoceptor alpha 1B 0.740705
COL9A1 collagen, type IX, alpha 1 0.728547
FGF1 fibroblast growth factor 1 (acidic) 0.707157
HMMR hyaluronan-mediated motility receptor (RHAMM) 0.650113
ADGRV1 adhesion G protein-coupled receptor V1 0.544318
FMOD fibromodulin 0.54393
CAMK1 calcium/calmodulin-dependent protein kinase I 0.543542
SEPT5 septin 5 0.535796
ADRB2 adrenoceptor beta 2, surface 0.51188
GALNS galactosamine (N-acetyl)-6-sulfatase 0.445052
FGFR3 fibroblast growth factor receptor 3 0.43941
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.433021
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.404557
IHH indian hedgehog 0.371107
ADRA1D adrenoceptor alpha 1D 0.353027
CAMK1D calcium/calmodulin-dependent protein kinase ID 0.318635
LRP2 low density lipoprotein receptor-related protein 2 0.307757
BGN biglycan 0.300894
SDC2 syndecan 2 0.284371
BMP2 bone morphogenetic protein 2 0.276158
SOX9 SRY (sex determining region Y)-box 9 0.245046
IRF1 interferon regulatory factor 1 0.237357
SPARC secreted protein, acidic, cysteine-rich (osteonectin) 0.231448
CTSK cathepsin K 0.216332
DCN decorin 0.206248
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.196139