Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
Associated Disease
sarcoidosis
Source Database
DisGeNET
Description
We evaluated gene expression of TGF-β1, SMAD2, 3 and 7 in bronchoalveolar lavage (BAL) cells and peripheral blood (PB) lymphocytes of sarcoidosis patients (n=94) to better understand the mechanisms of sarcoid inflammation.
Pubmed
25753554
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.133635563909062
Drugs