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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker CTD_human 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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker CTD_human Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. 19006214

2008
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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 GermlineCausalMutation ORPHANET Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 GermlineCausalMutation ORPHANET 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: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		0.730 Biomarker CTD_human Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004