Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. 11932316 2002
CUI: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct
0.400 Biomarker phenotype HPO