TAS2R38, taste 2 receptor member 38, 5726

N. diseases: 149; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia
0.010 Biomarker disease BEFREE This comprehensive study on the use of PTC124 and PTC-414 as successful nonsense suppression agents for the treatment of CHM highlights the translational potential of these drugs for inherited retinal disease. 27329764 2016