Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Hormone Resistance Syndrome
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
0.010 GeneticVariation BEFREE These observations suggest that the R450H mutation is a commonly observed TSH receptor mutation in patients with TSH resistance</span> in Japan. 16756469 2006