Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Aortic aneurysm, familial thoracic 3
disease 0.700 None 1.000 15 26 2003 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 14 20 2003 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
disease 1.000 strong 1.000 10 17 2003 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Loeys-Dietz Aortic Aneurysm Syndrome
disease 0.730 None 1.000 7 0 2004 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a
disease 0.400 None 1.000 5 1 2004 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype
phenotype 0.300 None 1.000 2 0 1995 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
disease 0.420 None 1.000 2 0 2005 2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group 0.300 None 1.000 2 0 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease 0.500 None 1.000 2 0 2005 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease 0.420 None 1.000 2 0 2005 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel
phenotype 0.300 None 1.000 2 0 2005 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability
phenotype 0.300 None 1.000 2 0 1995 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Benign neoplasm of brain, unspecified
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease 0.380 None 1.000 1 0 1997 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease 0.600 None 1.000 1 0 2006 2018
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Squamous cell carcinoma of esophagus
disease 0.320 None 1.000 1 0 2008 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal
disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0338489
Disease: Status Migrainosus
Status Migrainosus
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0279530
Disease: Malignant Bone Neoplasm
Malignant Bone Neoplasm
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0521664
Disease: Acute Confusional Migraine
Acute Confusional Migraine
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease 0.600 None 1.000 1 1 2000 2000
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.320 None 1.000 1 0 2004 2009
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
disease 0.320 None 1.000 1 0 1998 2018