Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation disease BEFREE Transforming growth factor beta receptor II (TGFBR2) polymorphisms and the association with nonsegmental vitiligo in the Korean population. 20518838 2010
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 GeneticVariation disease BEFREE Transforming growth factor beta receptor II (TGFBR2) polymorphisms and the association with nonsegmental vitiligo in the Korean population. 20518838 2010
CUI: C3887875
Disease: Visual field defects
Visual field defects 		0.100 Biomarker group HPO
CUI: C0574027
Disease: Vertebral artery aneurysm
Vertebral artery aneurysm 		0.010 GeneticVariation disease BEFREE Vertebral Artery Aneurysm Mimicking as Left Subclavian Artery Aneurysm in a Patient with Transforming Growth Factor Beta Receptor II Mutation. 26169464 2015
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 GeneticVariation group BEFREE Stratified analysis by gender revealed that the TGFBR2 rs6785358 genotype and allele frequency were significantly different between the CVSD case and controls, in both the male subgroup and the female subgroup (all P < 0.001). 26022443 2015
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 GeneticVariation group BEFREE We report on a neonate with the disorder caused by a known TGFBR2 mutation, who developed neonatal-onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left-to-right shunt via a ventricular septal defect (VSD) and an atrial septal defect. 20101701 2010
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left 		0.100 Biomarker phenotype HPO
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia 		0.010 GeneticVariation disease BEFREE We show an association between a common TGFBR2 polymorphism and risk of SCA caused by VA in the setting of CAD. 19959123 2009
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.010 Biomarker disease BEFREE We propose that microsatellite instability in TbetaR-II disables growth inhibitory pathways, allowing monoclonal selection of a disease-prone cell type within some vascular lesions. 9410894 1997
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 GeneticVariation group LHGDN Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease. 16928994 2006
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 GeneticVariation group BEFREE Mutations in either TGFBR1 or TGFBR2 predispose patients to aggressive and widespread vascular disease. 16928994 2006
CUI: C0042344
Disease: Varicose Ulcer
Varicose Ulcer 		0.010 Biomarker disease BEFREE Using quantitative polymerase chain reaction (qPCR) and immunohistochemical analysis, we found suppression of TGFbeta RI, TGFbeta RII and TGFbeta RIII, and complete absence of phosphorylated Smad2 (pSmad2) in VU epidermis. 20069132 2010
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture 		0.100 Biomarker phenotype HPO
CUI: C0042076
Disease: Urologic Neoplasms
Urologic Neoplasms 		0.100 Biomarker group HPO
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.110 Biomarker disease BEFREE Cleft palate in Tgfbr2 mutant mice results from a cell proliferation defect within the CNC-derived palatal mesenchyme. 12975342 2003
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.110 CausalMutation disease CLINVAR Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation. 28344185 2017
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 GeneticVariation disease BEFREE The carcinogenesis process in ulcerative colitis-associated colorectal cancer was closely associated with the microsatellite instability pathway through TGFbetaRII mutation by a dysfunction of the mismatch repair system. 18546042 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.020 Biomarker disease BEFREE We thus treated simple Tgfbr2(ΔIEC) mice with dextran sodium sulfate (DSS) that causes ulcerative colitis. 25687406 2015
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.020 GeneticVariation disease BEFREE TGF-β receptor type 2 (<i>TGFBR2</i>) mutations affected by a mismatch repair deficiency causes colorectal cancers (CRCs) with microsatellite instability, which is, however, associated with relatively better survival rates. 31756952 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.020 AlteredExpression disease BEFREE For mismatch repair deficiency and transforming growth factor β receptor type II (TGFBRII) overexpression there was a borderline association with a poorer prognosis (HR = 0.69, 95%CI: 0.46 - 1.04 and HR = 2.11, 95%CI: 1.02 - 4.40, respectively). 21362268 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 GeneticVariation phenotype BEFREE Mutations in TGFbeta-RII and BAX mediate tumor progression in the later stages of colorectal cancer with microsatellite instability. 20565851 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 GeneticVariation phenotype BEFREE Our results contribute to the understanding of how the TGFBR2 and BAX gene mutations contribute to tumor progression in the mutator phenotype pathway for MSI colorectal cancers. 15676142 2005
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.100 Biomarker phenotype BEFREE In conclusion, in lung cancer cells, SCUBE3 could serve as an endogenous autocrine and paracrine ligand of TGF-β type II receptor, which could regulate TGF-β receptor signaling and modulate EMT and cancer progression. 21441952 2011