TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1166778729
rs1166778729
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
CUI: C0268596
Disease:
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		0.010 GeneticVariation BEFREE These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations. 30709034 2019