OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene Set

Dataset CTD Gene-Disease Associations
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)
External Link http://ctdbase.org/detail.go?type=disease&acc=OMIM:215150
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Genes

2 genes/proteins associated with the disease OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
COL11A2 collagen, type XI, alpha 2 2.88009
COL2A1 collagen, type II, alpha 1 2.88009