TXNRD2, thioredoxin reductase 2, 10587

N. diseases: 134; N. variants: 31
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		0.040 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
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		0.040 GeneticVariation disease BEFREE Generalized resistance to thyroid hormone (GRTH) is a disorder of thyroid hormone action which has been linked to the beta thyroid hormone receptor (TR beta) gene. 8187964 1994
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		0.040 GeneticVariation disease BEFREE 28 different point mutations in the human thyroid hormone receptor beta (TR beta) gene have been associated with GRTH. 8514853 1993
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		0.040 GeneticVariation disease BEFREE We evaluated a family with GRTH for the TR beta gene. 1619012 1992