Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia
0.010 GeneticVariation disease BEFREE Pendrin is closely related to a family of sulfate transport proteins that includes the rat sulfate-anion transporter (encoded by Sat-1; 29% amino acid sequence identity), the human diastrophic dysplasia sulfate transporter (encoded by DTD; 32%) and the human sulfate transporter 'downregulated in adenoma' (encoded by DRA; 45%). 10192399 1999