kniest 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 a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (Human Disease Ontology, DOID_0080045)
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10 genes co-occuring with the disease kniest dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL2A1 collagen, type II, alpha 1 2.59565
GALNS galactosamine (N-acetyl)-6-sulfatase 1.21738
FMOD fibromodulin 0.94078
ASPN asporin 0.889668
NDP Norrie disease (pseudoglioma) 0.813052
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.748017
CKM creatine kinase, muscle 0.714811
HSPG2 heparan sulfate proteoglycan 2 0.631991
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.630813
COMP cartilage oligomeric matrix protein 0.587833