Diastrophic dysplasia Gene Set

Dataset CTD Gene-Disease Associations
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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536170
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Genes

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

Symbol Name Standardized Value
SLC26A2 solute carrier family 26 (anion exchanger), member 2 2.88009