Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
Associated Disease
aortic valve disease 2
Source Database
DisGeNET
Description
Confocal microscopy analysis showed a higher colocalization of latency associated peptide and latent TGFβ binding protein 3 in BAV aortas.
Pubmed
25745062
Section of the abstract supporting the evidence
APPROACH AND RESULTS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs