Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C4302200
Disease: Congenital central hypothyroidism
Congenital central hypothyroidism 		0.010 GeneticVariation disease BEFREE Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. 27603907 2016
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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE We conclude that mutations in these regions of the alpha q, alpha 11, alpha s, and TRHR genes occur infrequently, if at all, in human thyrotroph tumors. 8772588 1996
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: 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: C0001430
Disease: Adenoma
Adenoma 		0.030 AlteredExpression group BEFREE However, there was no significant correlation between TRHR gene expression and responsiveness to PRL or gonadotropins to TRH administration in PRL cell adenomas (chi2 = 0.16, p = 0.87) or gonadotroph cell adenomas (chi2 = 0.0006, p = 1), respectively. 14599121 2003
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 Biomarker group LHGDN However, there was no significant correlation between TRHR gene expression and responsiveness to PRL or gonadotropins to TRH administration in PRL cell adenomas (chi2 = 0.16, p = 0.87) or gonadotroph cell adenomas (chi2 = 0.0006, p = 1), respectively. 14599121 2003
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 AlteredExpression group BEFREE The ratio of plasma peak GH induced by TRH administration to the basal level of plasma GH in the patients with acromegaly correlated positively with the level of TRHR-1 mRNA expression in their GH-producing adenomas (r = 0.620, P = 0.0179). 11298082 2001
CUI: C0001430
Disease: Adenoma
Adenoma 		0.030 AlteredExpression group 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: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and replication studies identified TRHR as an important gene for lean body mass. 19268274 2009
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association and replication studies identified TRHR as an important gene for lean body mass. 19268274 2009
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype 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: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO