TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Erythropoietic Protoporphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162568
Disease: Erythropoietic Protoporphyria
Erythropoietic Protoporphyria 		0.010 AlteredExpression disease BEFREE The unexpected finding of PpIX as a TrxR1 inhibitor suggests that such inhibition may contribute to symptoms associated with conditions of abnormally high PpIX levels, such as reduced ferrochelatase activity seen in erythropoietic protoporphyria. 21262347 2011