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 Biomarker CTD_human

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.610 CausalMutation CGI

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.600 CausalMutation CGI

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 Biomarker CTD_human

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.500 CausalMutation CGI

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: C2931058
Disease: Marfan Syndrome type 2
Marfan Syndrome type 2 		0.350 GermlineCausalMutation ORPHANET

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: C0153942
Disease: Benign neoplasm of esophagus
Benign neoplasm of esophagus 		0.300 CausalMutation CGI

Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0154059
Disease: Carcinoma in situ of esophagus
Carcinoma in situ of esophagus 		0.300 CausalMutation CGI

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 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: 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: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.600 Biomarker CTD_human 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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.500 Biomarker CTD_human 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: C0007097
Disease: Carcinoma
Carcinoma 		0.360 Biomarker CTD_human 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: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker CTD_human 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: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker CTD_human 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: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker CTD_human 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: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker CTD_human 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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker CTD_human A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123

2007
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		0.400 Biomarker CTD_human A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123

2007