Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
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
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
0.300 GermlineCausalMutation disease ORPHANET Congenital hypothyroidism. 20537182 2010
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
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 GeneticVariation disease BEFREE A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. 26735259 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.210 Biomarker group BEFREE As it has been demonstrated that hypertensive patients have a blunted TSH response to TRH injection, suggesting a defect in the TRHR, we postulate that the TRHR gene is involved in human hypertension. 11566956 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.210 Biomarker group RGD Antisense to thyrotropin releasing hormone receptor reduces arterial blood pressure in spontaneously hypertensive rats. 7554113 1995
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
0.210 Biomarker disease MGD
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
0.200 Biomarker disease MGD
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