Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
0.010 GeneticVariation disease BEFREE Co-transfection into SW480.7 cells of Smad4 together with a Ras phosphorylation-resistant Smad3 (but not with wild type Smad2, Smad3, adenomatous polyposis coli (APC), or TGF-beta type II receptor) restored the TGF-beta antiproliferative response. 10559252 1999
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma
0.010 Biomarker disease BEFREE In the present study, the expression level of the important tumor suppressor, transforming growth factor beta type II receptor (TGFBR2), was examined both in LCC and non-LCC tumors, which include AdC, SqC and adenosquamous carcinoma (Ad-SqC). 17566598 2007
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.010 AlteredExpression disease LHGDN Reconstructing the TbetaRII can lead to reversion of the malignant phenotype of TbetaRII-negative human adrenocortical carcinoma, which contains SW-13 cells. 16673206 2006
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
0.010 Biomarker disease BEFREE Reconstructing the TbetaRII can lead to reversion of the malignant phenotype of TbetaRII-negative human adrenocortical carcinoma, which contains SW-13 cells. 16673206 2006
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 AlteredExpression disease BEFREE Resistance to TGF-beta1 correlates with a reduction of TGF-beta type II receptor expression in Burkitt's lymphoma and Epstein-Barr virus-transformed B lymphoblastoid cell lines. 10811940 2000
CUI: C0280725
Disease: Adult Cholangiocarcinoma
Adult Cholangiocarcinoma
0.200 Biomarker disease RGD In situ detection of TGF betas, TGF beta receptor II mRNA and telomerase activity in rat cholangiocarcinogenesis. 12632524 2003
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 AlteredExpression disease BEFREE ERBB3, IGF1R, and TGFBR2 expression correlate with PDGFR expression in glioblastoma and participate in PDGFR inhibitor resistance of glioblastoma cells. 29888103 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 Biomarker disease BEFREE Silencing of TbetaIIR abolished TGF-beta-induced glioblastoma invasiveness and migratory responses in vitro. 17684491 2008
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: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 GeneticVariation disease BEFREE Microsatellite instability is an early genetic event in myelodysplastic syndrome but is infrequent and not associated with TGF-beta receptor type II gene mutation. 8892669 1996
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: C0001816
Disease: Agnosia
Agnosia
0.100 Biomarker disease HPO
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
0.010 AlteredExpression disease BEFREE This study demonstrated the first in the literature that lower miR-21 expression in CB and increased TGFBR2 expression is associated with antenatal IgE production and development of AR. 20701609 2010
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma
0.010 AlteredExpression disease BEFREE Using quantitative expression analysis in 16 ESFT and seven alveolar rhabdomyosarcomas (ARMS), we were able to validate the four genes previously described as direct targets of the EWSR1-FLI1 oncoprotein, showing overexpression of CAV1 and NR0B1 and underexpression of IGFBP3 and TGFBR2 in ESFT as compared to ARMS. 23185447 2012
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 GeneticVariation disease BEFREE Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have obtained negative results for these genes in a large cohort of AD patients, suggesting the involvement of additional genes or acquired factors. 20648054 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 AlteredExpression disease BEFREE We report that the TGF-beta type II receptor (TbetaRII) is mainly expressed by neurons, and that TbetaRII levels are reduced in human AD brain and correlate with pathological hallmarks of the disease. 17080199 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have obtained negative results for these genes in a large cohort of AD patients, suggesting the involvement of additional genes or acquired factors. 20648054 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 Biomarker disease BEFREE Among them, expression of AD-related genes (C4a/C4b, Cd74, Ctss, Gfap, Nfe2l2, Phyhd1, S100b, Tf, Tgfbr2, and Vim) was increased in the App <sup>NL-G-F/NL-G-F</sup> cortex as Aβ amyloidosis progressed with exacerbated gliosis, while genes commonly altered in the 3xTg-AD-H and human AD cortices correlated with neurological disease. 29259249 2017
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax
0.100 Biomarker phenotype HPO
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE Among them, expression of AD-related genes (C4a/C4b, Cd74, Ctss, Gfap, Nfe2l2, Phyhd1, S100b, Tf, Tgfbr2, and Vim) was increased in the App <sup>NL-G-F/NL-G-F</sup> cortex as amyloidosis progressed with exacerbated gliosis, while genes commonly altered in the 3xTg-AD-H and human AD cortices correlated with neurological disease. 29259249 2017
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
0.300 Biomarker disease CTD_human A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 10789724 2000
CUI: C0002940
Disease: Aneurysm
Aneurysm
0.100 CausalMutation disease CLINVAR
CUI: C0002940
Disease: Aneurysm
Aneurysm
0.100 GeneticVariation disease CLINVAR
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
0.100 CausalMutation disease CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root
0.100 Biomarker disease HPO