Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 20101701

2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 20358619

2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511

2009
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248

2005
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. 21949523

2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 3 		0.700 GeneticVariation UNIPROT Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 16251899

2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.610 GeneticVariation UNIPROT A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 10789724

2000
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.600 GeneticVariation ORPHANET

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 		0.600 GeneticVariation UNIPROT HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 9590282

1998
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation UNIPROT

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.340 GeneticVariation UNIPROT

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.320 GeneticVariation ORPHANET These results are consistent with our previous findings in gastric cancer and support the hypothesis that genetic variants in TGFB1 and TGFBR2 may modulate the risk of ESCC. 17680270

2008
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.300 GeneticVariation UNIPROT

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 GeneticVariation ORPHANET

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development? 23161884

2013
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368

2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179

2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker CTD_human A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. 18084123

2007
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. 12975342

2003
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker CTD_human Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. 20358619

2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker CTD_human Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 19006214

2008