THRA, thyroid hormone receptor alpha, 7067

N. diseases: 124; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 GeneticVariation disease BEFREE We hypothesized that Thra1(PV/+) mice could be used to predict the skeletal outcome of human THRA mutations and determine whether prolonged treatment with a supraphysiological dose of T4 ameliorates the skeletal abnormalities. 24914936 2014
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.010 Biomarker disease BEFREE v-ErbA is a mutated variant of thyroid hormone receptor (TRalpha/NR1A1) borne by the Avian Erythroblastosis virus causing erythroleukemia. 11314012 2001
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE Genetic and physical maps constructed for the APL breakpoint region on chromosome 17 have indicated that two fully-linked DNA markers, defining loci for THRA1 and D17S80, map to opposite sides of an APL breakpoint yet reside on a common 350-kb Clal fragment. 2278973 1990
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE In human acute promyelocytic leukemia (APL) and avian erythroleukemia (AEL), chromosomal translocations and/or mutations in nuclear hormone receptors, RARalpha [NR1B1] and TRalpha [NR1A1], yielded oncoproteins that deregulate transcription and alter chromatin structure. 11420726 2001
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 GeneticVariation disease BEFREE Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promyelocytic leukaemia. 3865620 1985
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.040 Biomarker disease BEFREE The gene cluster including ErbA1 is known to be flanked by the constitutional 15;17 translocation breakpoint in hybrid SP3 and by the acute promyelocytic leukemia (APL) breakpoint, which provides the following gene and breakpoint order: cen-SP3-(D17S33,CRYB1)-NF1-(CSF3,ERBA1, ERBB2)-APL-tel. 2491776 1989
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 PosttranslationalModification group LHGDN Lack of mutations in the thyroid hormone receptor (TR) alpha and beta genes but frequent hypermethylation of the TRbeta gene in differentiated thyroid tumors. 17911173 2007
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.010 Biomarker disease BEFREE v-ErbA is a mutated variant of thyroid hormone receptor (TRalpha/NR1A1) borne by the Avian Erythroblastosis virus causing erythroleukemia. 11314012 2001
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 Biomarker disease BEFREE To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism. 11378852 2001
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE The relationship between the genetic variability of the THRA gene and AD risk remains uncertain but cannot be entirely excluded. 19427062 2011
CUI: C0002871
Disease: Anemia
Anemia
0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia
0.110 Biomarker disease BEFREE Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis. 28911146 2017
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
0.300 Biomarker disease GENOMICS_ENGLAND Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations. 27144938 2016
Attention deficit hyperactivity disorder
0.010 Biomarker disease BEFREE To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism. 11378852 2001
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism. 11378852 2001
CUI: C0346156
Disease: Benign neoplasm of breast
Benign neoplasm of breast
0.010 Biomarker disease BEFREE For BRCA1 (D17S855, THRA1, D17S579) losses could be detected in invasive ductal carcinoma (IDC; n = 108) in 32-38%, invasive lobular carcinoma (ILC; n = 19) in 21-42% depending on the marker applied, but not in benign breast tumours (n = 15). 8630282 1996
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 Biomarker disease BEFREE To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERalpha and TRalpha genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism. 11378852 2001
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental
0.010 GeneticVariation group BEFREE Dominant-negative mutations of TRα cause resistance to thyroid hormone alpha (RTHα; OMIM 614450), characterized by excessive repression of T3 target genes leading to delayed skeletal development, growth retardation, and bone dysplasia. 30760120 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 GeneticVariation disease BEFREE These markers included polymorphisms within the thyroid hormone receptor alpha1 gene (THRA1), the breast cancer gene (BRCA1), GPIIb, GPIIIa, and an anonymous marker D17S579. 9695977 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE Thus, we conclude that dronedarone's cytotoxic effect in breast cancer cell lines are independent of THRα or THRα1 antagonism. 30410118 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE Expression of thyroid hormone receptor/erbA genes is altered in human breast cancer. 12082618 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 Biomarker disease BEFREE Southern analysis revealed a rearrangement of THRA1 in the BT474 breast cancer cell line. 7511052 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 AlteredExpression disease BEFREE Presence of two members of c-erbA receptor gene family (c-erbA beta and c-erbA2) in smallest region of somatic homozygosity on chromosome 3p21-p25 in human breast carcinoma. 2573734 1989