TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Disease: 22q11 Deletion Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.010 Biomarker disease BEFREE (2019) identify haploinsufficiency of mitochondrial Txnrd2 as an important contributor to the hypo-cortico-cortical connectivity of 22q11 deletion syndrome. 31220439 2019