Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine
0.300 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
0.100 Biomarker disease HPO
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
0.100 Biomarker phenotype HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
0.100 Biomarker disease HPO
CUI: C0521664
Disease: Acute Confusional Migraine
Acute Confusional Migraine
0.300 Biomarker disease CTD_human Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. 16885183 2006
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1
0.010 GeneticVariation disease BEFREE Molecular testing of the TGFBR1 and TGFBR2 genes, involved in LDS, resulted negative, but analysis of SMAD3 disclosed the novel heterozygous loss-of-function mutation c.1170_1179del (p.Ser391AlafsX7) in exon 9 in all affected family members, confirming the diagnosis of AOS. 23554019 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE Immunohistochemical staining with TGFBR2 antibody revealed statistically significant or near significant differences in the reduced expression in LCC (80% of cases) versus AdC (42.1% of cases, P=0.0288) and SqC (47.1% of cases, P=0.0589), or LCC versus non-LCC (45% of cases, P=0.02). 17566598 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE Tgfbr2 was methylated and markedly down-regulated in three of seven 3,2'-dimethyl-4-aminobiphenyl-induced invasive adenocarcinomas in the dorsolateral lobe of the rat prostate. 18381416 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 GeneticVariation group BEFREE We investigated the association between RII mutations and various clinicopathological variables and genetic alterations in a large series of sporadic adenocarcinomas arising in the proximal colon. 9664904 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 Biomarker group BEFREE In conclusion, combined inactivation of both Apc and Tgfbr2 in the colon epithelium of a CRC mouse model promoted development of adenocarcinoma in the proximal colon. 27835699 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group LHGDN Lung adenocarcinoma global profiling identifies type II transforming growth factor-beta receptor as a repressor of invasiveness. 15976377 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 GeneticVariation group BEFREE Six additional RII mutations were all found in highly progressed adenomas that contained regions of frankly invasive adenocarcinoma. 9679977 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 GeneticVariation group BEFREE Homozygous or heterozygous TGFβRII deletion in mouse airway epithelia increases the size and number of Kras(G12D)-initiated adenocarcinoma and SCC. 22399565 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.050 GeneticVariation disease BEFREE We previously showed that targeting Kras(G12D) activation and transforming growth factor β receptor type II (TGFβRII) deletion to airway basal cells via a keratin promoter induced formation of both lung AdC and SCC. 23625632 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.050 AlteredExpression disease BEFREE This study was designed to determine whether reduced expression of TGFβ type II receptor (TGFβRII) promotes lung adenocarcinoma and SCC carcinogenesis. 22399565 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.050 Biomarker disease BEFREE Clinical investigations have suggested that repression of the TGF-β type II receptor (TβRII) may be an important step in progression of lung adenocarcinoma from an indolent in situ state to a frank invasive carcinoma. 21911454 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.050 AlteredExpression disease BEFREE NCI-H23, a human non-small-cell lung adenocarcinoma cell line which has a frameshift mutation in, and reduced expression of, the TGF-beta type-II receptor (TGF-beta RII), exhibits resistance to growth inhibition by TGF-beta(1) in vitro. 12399125 2002
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.050 GeneticVariation disease BEFREE The aim of this study was to test whether TGF-β1 C509T and TGF-β receptor II (TGFBR2) G-875A polymorphisms were associated with lung adenocarcinoma in nonsmoking females. 25928368 2015
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.110 Biomarker disease HPO
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.110 GeneticVariation disease BEFREE In this study, we determined the incidence of microsatellite instability (MIN) in pancreatic adenocarcinoma and determined whether MIN might target, for mutations, the simple nucleotide repeats of the transforming growth factor beta type II receptor (TGFBR2) gene. 9598801 1998
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: C0001430
Disease: Adenoma
Adenoma
0.020 GeneticVariation group BEFREE These RII mutations were detected in both the advanced adenomas and their adjacent regions of carcinoma. 9679977 1998
CUI: C0001430
Disease: Adenoma
Adenoma
0.020 Biomarker group BEFREE Two cases showed a missense mutation at codon 191 or loss of heterozygosity in TGF-beta RII in both the adenoma and cancer. 9566701 1998