rs104893819, TGFBR2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 27879313 2016
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 21267002 2011
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. 17935258 2008
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123 2007
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. 17652900 2007
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123 2007
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004
Aortic aneurysm, familial thoracic 3
CUI: C2674574
Disease: Aortic aneurysm, familial thoracic 3
0.700 CausalMutation CLINVAR
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.700 CausalMutation CLINVAR
Loeys-Dietz Syndrome
CUI: C2697932
Disease: Loeys-Dietz Syndrome
0.700 GeneticVariation CLINVAR
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
CUI: C1860896
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
0.700 CausalMutation CLINVAR