Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 GeneticVariation BEFREE LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. 27782106

2016
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 Biomarker BEFREE As the resulting protein is unlikely functional and by considering data from the literature, we support the notion that functional haploinsufficiency for TGF-β2 predisposes to thoracic aortic disease. 24193348

2014
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 GeneticVariation BEFREE Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease. 25046559

2014