Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. 27362444 2017
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 GermlineCausalMutation disease ORPHANET Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. 22851492 2012
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 GermlineCausalMutation disease ORPHANET Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina. 12930599 2003
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 GeneticVariation disease CLINVAR New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. 11549695 2001
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 GeneticVariation disease CLINVAR 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
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 Biomarker disease GENOMICS_ENGLAND Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. 2792087 1989
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 CausalMutation disease CLINVAR
CUI: C0271789
Disease: Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 4 		0.700 Biomarker disease CTD_human
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.500 Biomarker disease CTD_human Amiodarone-induced myxoedema coma. 24729111 2014
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.500 GermlineCausalMutation disease ORPHANET Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. 22851492 2012
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.500 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.500 Biomarker disease CTD_human Induced hypothyroidism accelerates the regression of liver fibrosis in rats. 18031379 2007
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.500 GermlineCausalMutation disease ORPHANET Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina. 12930599 2003
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 Biomarker disease BEFREE Adipose TSHB in Humans and Serum TSH in Hypothyroid Rats Inform About Cellular Senescence. 30448824 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 Biomarker disease CTD_human Amiodarone-induced myxoedema coma. 24729111 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 Biomarker disease CTD_human Induced hypothyroidism accelerates the regression of liver fibrosis in rats. 18031379 2007
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 Biomarker disease BEFREE Thyroid-stimulating antibody was detected in the hyperthyroid patient, and TSHB-ab was found in one of eight patients with hypothyroid AT. 8664977 1996
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 GeneticVariation disease BEFREE Pituitary adenomas and activating mutations of the TSH receptor gene (Parma et al., 1993) cause hyperthyroidism and TSH beta gene defects (Hayashizaki et al., 1989) and inactivating mutations of the TSH receptor gene (Sunthornthepvarakul et al., 1995) cause hypothyroidism. 9039330 1996
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.430 Biomarker disease HPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.400 Biomarker disease GENOMICS_ENGLAND Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. 27362444 2017
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.400 Biomarker disease HPO
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