hereditary multiple exostoses Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results_in multiple bony spurs throughout a child's growth. (Human Disease Ontology, DOID_206)
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Genes

30 genes co-occuring with the disease hereditary multiple exostoses in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
EXT2 exostosin glycosyltransferase 2 3.51635
EXT1 exostosin glycosyltransferase 1 3.41938
EXTL2 exostosin-like glycosyltransferase 2 2.36543
EXTL1 exostosin-like glycosyltransferase 1 1.95817
EXTL3 exostosin-like glycosyltransferase 3 1.45265
GALNT5 polypeptide N-acetylgalactosaminyltransferase 5 1.39652
UTP15 UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 1.35028
FAM20B family with sequence similarity 20, member B 1.15837
ETHE1 ethylmalonic encephalopathy 1 1.14857
IHH indian hedgehog 1.07866
MMP12 matrix metallopeptidase 12 0.984321
A4GNT alpha-1,4-N-acetylglucosaminyltransferase 0.977165
SDC2 syndecan 2 0.932898
GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 0.888848
FAXDC2 fatty acid hydroxylase domain containing 2 0.855677
SDC3 syndecan 3 0.722886
ONECUT3 one cut homeobox 3 0.686691
GCNT4 glucosaminyl (N-acetyl) transferase 4, core 2 0.644981
A4GALT alpha 1,4-galactosyltransferase 0.604201
GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 0.596402
GPC1 glypican 1 0.570718
WNT11 wingless-type MMTV integration site family, member 11 0.52729
CHPF chondroitin polymerizing factor 0.508424
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.483224
SCAI suppressor of cancer cell invasion 0.471468
FES FES proto-oncogene, tyrosine kinase 0.449947
TRAF3 TNF receptor-associated factor 3 0.364454
MGAT5 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 0.276158
PTHLH parathyroid hormone-like hormone 0.203604
HPSE heparanase 0.185313