diastrophic dysplasia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (Human Disease Ontology, DOID_14687)
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Genes

1 genes involed in the disease diastrophic dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
SLC26A2 solute carrier family 26 (anion exchanger), member 2