Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 AlteredExpression disease BEFREE Mutations in TBL1X may cause CeH due to the impaired up-regulation of TRH and/or TSHβ gene transcription despite low T3 levels. 29794369 2018
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 GeneticVariation disease BEFREE Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. 27362444 2017
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 Biomarker disease CTD_human Amiodarone-induced myxoedema coma. 24729111 2014
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 GeneticVariation disease BEFREE Except for the neonatal CH due to biallelic TSHβ mutations, the thyroid hormone defect is rarely as profound as can be observed in some primary forms. 22851492 2012
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 Biomarker disease CTD_human Induced hypothyroidism accelerates the regression of liver fibrosis in rats. 18031379 2007
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 GeneticVariation disease BEFREE Variable TSH levels ranging from not detectable low to elevated were found so that central hypothyroidism due to a mutation in the TSHB gene was suspected. 16804796 2006
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 GeneticVariation disease BEFREE Central hypothyroidism can be due to recessive inheritance of loss-of-function mutations of the TSH-beta gene and to developmental defects of the hypothalamus or pituitary. 12566717 2003
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism
0.360 GeneticVariation disease BEFREE Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene. 11297590 2001