Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 GeneticVariation group BEFREE Total CD3 T Cells Are Necessary and Sufficient to Induce Colitis in Immunodeficient Mice With Dendritic Cell-Specific Deletion of TGFbR2: A Novel IBD Model to Study CD4 and CD8 T-Cell Interaction. 31559420 2020
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 GeneticVariation disease BEFREE Total CD3 T Cells Are Necessary and Sufficient to Induce Colitis in Immunodeficient Mice With Dendritic Cell-Specific Deletion of TGFbR2: A Novel IBD Model to Study CD4 and CD8 T-Cell Interaction. 31559420 2020
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 Biomarker disease BEFREE Two triplets (MIR22HG_hsa-mir-21_TGFBR2 and MIR22HG_hsa-mir-21_BCL2) were finally identified; not only were they significantly associated with PRAD survival but they also had the highest average degree in the identified subnetwork. 31579415 2019
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy
0.010 Biomarker disease BEFREE C57Bl/6 or neuron-specific transforming growth factor beta receptor 2 (TGFβR2) null mice (TGFβR2<sup>ΔNeu</sup>) were treated with azoxymethane (AOM) to induce acute liver failure and HE. 30940161 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker disease BEFREE <b>Methods</b>: We established a cisplatin-induced AKI mouse model with TGF-β type II receptor or Smad2 specifically deleted from renal tubular epithelial cells (TECs). 31754396 2019
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE In this study, we developed gene therapies based on 3 longevity associated genes (fibroblast growth factor 21 [FGF21], αKlotho, soluble form of mouse transforming growth factor-β receptor 2 [sTGFβR2]) delivered using adeno-associated viruses and explored their ability to mitigate 4 age-related diseases: obesity, type II diabetes, heart failure, and renal failure. 31685628 2019
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
0.010 Biomarker disease BEFREE In this study, we developed gene therapies based on 3 longevity associated genes (fibroblast growth factor 21 [FGF21], αKlotho, soluble form of mouse transforming growth factor-β receptor 2 [sTGFβR2]) delivered using adeno-associated viruses and explored their ability to mitigate 4 age-related diseases: obesity, type II diabetes, heart failure, and renal failure. 31685628 2019
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
0.010 Biomarker disease BEFREE C57Bl/6 or neuron-specific transforming growth factor beta receptor 2 (TGFβR2) null mice (TGFβR2<sup>ΔNeu</sup>) were treated with azoxymethane (AOM) to induce acute liver failure and HE. 30940161 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker disease BEFREE While retinal vasculature was unaffected, TGFBR2-deficient microglia demonstrated exaggerated responses to laser-induced injury that was associated with increased choroidal neovascularization, a hallmark of advanced exudative AMD. 30666961 2019
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.010 Biomarker phenotype BEFREE The Variant at TGFBRAP1 but Not TGFBR2 Is Associated with Antituberculosis Drug-Induced Liver Injury. 31534460 2019
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
0.010 GeneticVariation disease BEFREE Logistic models including TGFB1 variants showed that in luminal-A tumors, G-875A retained its significance while TGFB1 haplotype showed a trend towards significance; otherwise, in HER2<sup>+</sup> tumors TGFB1 variants remained significant while TGFBR2 showed a trend for association. 31364002 2019
CUI: C3805278
Disease: Extrahepatic Cholangiocarcinoma
Extrahepatic Cholangiocarcinoma
0.010 AlteredExpression disease BEFREE Although the lack of an appropriate mouse model has hampered investigation of extrahepatic cholangiocarcinoma (ECC), we recently established a novel mouse model of biliary injury-related ECC by ductal cell-specific activation of Kras and deletion of transforming growth factor (TGF) β receptor type 2 and E-cadherin. 30536105 2019
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder
0.010 GeneticVariation disease BEFREE This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). 30070022 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 Biomarker disease BEFREE Materials and Methods In a dose escalation study, eight patients with Epstein Barr virus-positive Hodgkin lymphoma received two to 12 doses of between 2 × 10<sup>7</sup> and 1.5 × 10<sup>8</sup> cells/m<sup>2</sup> of DNRII-expressing T cells with specificity for the Epstein Barr virus-derived tumor antigens, latent membrane protein (LMP)-1 and LMP-2 (DNRII-LSTs). 29315015 2018
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired
0.010 Biomarker disease BEFREE In conclusion, present investigation is a first attempt to link fluoride induced hyper H3K9 tri-methylation mediated repression of TGFBR2 and SMAD3 with the development of skeletal fluorosis. 29275289 2018
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
0.010 Biomarker disease BEFREE Materials and Methods In a dose escalation study, eight patients with Epstein Barr virus-positive Hodgkin lymphoma received two to 12 doses of between 2 × 10<sup>7</sup> and 1.5 × 10<sup>8</sup> cells/m<sup>2</sup> of DNRII-expressing T cells with specificity for the Epstein Barr virus-derived tumor antigens, latent membrane protein (LMP)-1 and LMP-2 (DNRII-LSTs). 29315015 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
0.010 Biomarker disease BEFREE Materials and Methods In a dose escalation study, eight patients with Epstein Barr virus-positive Hodgkin lymphoma received two to 12 doses of between 2 × 10<sup>7</sup> and 1.5 × 10<sup>8</sup> cells/m<sup>2</sup> of DNRII-expressing T cells with specificity for the Epstein Barr virus-derived tumor antigens, latent membrane protein (LMP)-1 and LMP-2 (DNRII-LSTs). 29315015 2018
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm
0.010 Biomarker phenotype BEFREE To better model the primarily luminal phenotype of human CaP we mutated Pten and Tgfbr2 specifically in luminal cells, and found that these tumors also progress to invasive and metastatic cancer. 29782499 2018
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 Biomarker phenotype BEFREE Collectively, our findings demonstrated that increased TGFBR2 could be responsible for the hyperactive TGF-β signaling observed in SSc. 30145936 2018
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
0.010 Biomarker disease BEFREE Tgfbr2 ablation late in the pathological process reduced cardiac fibrosis, preserved cardiac function, and prolonged Mybpc3<sup>40kDa</sup> mouse survival but failed to reverse cardiac hypertrophy. 30566042 2018
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis
0.010 Biomarker disease BEFREE The increase in protein expression level of the ligand TGFβ1 was 285 ± 1.15% higher and its receptor TGFβRII was 170 ± 0.98% higher in hippocampus of patients with HS in comparison to the autopsy hippocampal control samples. 30153648 2018
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
0.010 Biomarker disease BEFREE Moreover, we conducted PCR, western blot, and luciferase assays which studied the relationship of miR-93 and TGFBR2 in PCa cell lines and specimens. 29699590 2018
CUI: C2697933
Disease: Loeys-Dietz Syndrome Type 1
Loeys-Dietz Syndrome Type 1
0.010 GeneticVariation disease BEFREE This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). 30070022 2018
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
0.010 AlteredExpression disease BEFREE TGFβ1 and TGFβ Receptor 2 (TGFBR2) gene expression levels were significantly increased in HCHWA-D in comparison to the controls, in both frontal and occipital lobes. 28557134 2018
CUI: C4075851
Disease: Autoimmune cholangitis
Autoimmune cholangitis
0.010 Biomarker disease BEFREE We previously reported that mice with T cell-restricted expression of a dominant negative form of transforming growth factor beta receptor type II (dnTGFβRII) spontaneously develop an autoimmune cholangitis that resembles human primary biliary cholangitis (PBC). 29375127 2018