Kniest dysplasia Gene Set

Dataset CTD Gene-Disease Associations
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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1 genes/proteins associated with the disease Kniest dysplasia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
COL2A1 collagen, type II, alpha 1 2.88009