Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7068
Gene Symbol: THRB
THRB
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.010 GeneticVariation BEFREE Interestingly, molecular genetic testing showed that, whereas the elder sister is affected by PS, the younger sister has both PS (due to compound heterozygous SLC26A4 mutations) and RTH (due to a novel de novo heterozygous THRB mutation). 19318451

2009