rs111033316, SLC26A4

N. diseases: 1
Disease: Pendred's syndrome ×
Source: INFERRED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.800 GeneticVariation CLINVAR Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. 25394566 2015
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.800 GeneticVariation CLINVAR Etiology and audiological outcomes at 3 years for 364 children in Australia. 23555729 2013
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.800 GeneticVariation CLINVAR Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. 19318451 2009
Pendred's syndrome
CUI: C0271829
Disease: Pendred's syndrome
0.800 GeneticVariation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907 2009