Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
Associated Disease
Camurati-Engelmann Syndrome
Source Database
DisGeNET
Description
We cautiously conclude that TGFβ1 inhibition with losartan deserves further evaluation in the clinical management of Camurati-Engelmann disease.
Pubmed
25099136
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
10
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.489977335918515
Drugs