TTR, transthyretin, 7276

N. diseases: 461; N. variants: 64
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		0.700 Biomarker disease GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737 2018
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		0.700 GeneticVariation disease UNIPROT A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. 1979335 1990
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		0.700 Biomarker disease CTD_human
CUI: C2750824
Disease: Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 		0.700 CausalMutation disease CLINVAR