Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.410 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.410 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.410 AlteredExpression disease BEFREE Taken together, p38/TRHr-dependent regulation of TPO in thyroid cells contributes to the hypothyroidism of triclosan-treated rats. 29462796 2018
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.310 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		0.310 GeneticVariation disease BEFREE Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq. 28419241 2017
CUI: C1861106
Disease: Thyrotropin-Releasing Hormone Resistance, Generalized
Thyrotropin-Releasing Hormone Resistance, Generalized 		0.300 Biomarker disease GENOMICS_ENGLAND A family with complete resistance to thyrotropin-releasing hormone. 19213692 2009
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.300 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		0.300 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		0.300 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C4511136
Disease: Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 		0.300 GermlineCausalMutation disease ORPHANET Clinical review: Central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. 22851492 2012
CUI: C4511136
Disease: Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 		0.300 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		0.300 Biomarker disease CTD_human A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 9141550 1997
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.210 Biomarker disease MGD
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.210 GeneticVariation disease BEFREE A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. 26735259 2016
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism 		0.200 Biomarker disease MGD
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.010 AlteredExpression disease BEFREE The sequence and functioning analyses showed the same expression of TRH-R mRNA in the pituitary adenomas as that in the normal pituitaries, indicating that 1) some adenomas of patients with acromegaly express an intact and functional TRH-R, and that 2) the paradoxical response of GH secretion to TRH found in the patients might be a direct effect of TRH on TRH-R expressed in the adenoma. 8396925 1993
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		0.010 AlteredExpression disease BEFREE The responsiveness of plasma PRL and gonadotrophin to TRH in the patients with prolactinoma and nonfunctioning pituitary adenoma did not significantly correlate with the levels of TRHR-1 mRNA expression in their pituitary adenomas, respectively. 11298082 2001
CUI: C0338078
Disease: Non-Functioning Pituitary Gland Neoplasm
Non-Functioning Pituitary Gland Neoplasm 		0.010 AlteredExpression disease BEFREE The responsiveness of plasma PRL and gonadotrophin to TRH in the patients with prolactinoma and nonfunctioning pituitary adenoma did not significantly correlate with the levels of TRHR-1 mRNA expression in their pituitary adenomas, respectively. 11298082 2001
CUI: C0346302
Disease: Growth Hormone-Secreting Pituitary Adenoma
Growth Hormone-Secreting Pituitary Adenoma 		0.010 AlteredExpression disease BEFREE We cloned a human thyrotropin-releasing hormone receptor (TRH-R) gene and its pituitary cDNA, and examined whether TRH-R mRNA may be expressed and function in the GH-secreting pituitary adenomas of patients with acromegaly. 8396925 1993
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE Homozygosity mapping uncovered DPP4, TRHR, and MLF1 as novel candidate susceptibility genes for ASD in the Lebanese. 28358038 2017
CUI: C1707446
Disease: Columnar Cell Hyperplasia of the Breast
Columnar Cell Hyperplasia of the Breast 		0.010 GeneticVariation disease BEFREE However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. 28515030 2017