spondyloepimetaphyseal dysplasia, strudwick type Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (Human Disease Ontology, DOID_0080028)
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2 genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type 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 1.43157
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 1.16906