TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840364
Disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY 		0.020 GeneticVariation disease BEFREE We report on an 8-year-old boy with pituitary resistance to thyroid hormone (PRTH) having a cysteine for arginine substitution at codon 320 in the TR-beta gene who was presented because of thyrotoxicosis. 8696005 1996
CUI: C1840364
Disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY 		0.020 Biomarker disease BEFREE Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect. 8958790 1996