otospondylomegaepiphyseal dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (Human Disease Ontology, DOID_0080026)
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Genes

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

Symbol Name Standardized Value
COL11A2 collagen, type XI, alpha 2 2.25213
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 2.1739
COL11A1 collagen, type XI, alpha 1 0.739488
COL2A1 collagen, type II, alpha 1 0.43941