Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152077
Disease: Dyshormonogenic goiter
Dyshormonogenic goiter
0.030 GeneticVariation disease BEFREE SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. 30333321 2018
CUI: C0152077
Disease: Dyshormonogenic goiter
Dyshormonogenic goiter
0.030 Biomarker disease BEFREE Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. 20834201 2011
CUI: C0152077
Disease: Dyshormonogenic goiter
Dyshormonogenic goiter
0.030 Biomarker disease BEFREE Mutations in the PDS gene and the consequent impaired function of pendrin leads to the classic phenotype of Pendred syndrome, i.e. dyshormonogenic goiter and congenital sensorineural hearing loss. 11919333 2002