TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Disease: Cardiac defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.010 Biomarker group BEFREE In contrast to the Txnrd2-knockout mouse model, in which embryonic lethality as a consequence of hematopoietic and cardiac defects is described, absence of TXNRD2 in humans leads to glucocorticoid deficiency. 24601690 2014