Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
Associated Disease
CADASIL Syndrome
Source Database
DisGeNET
Description
We also detected increased levels of the TGF-β prodomain (also known as latency-associated peptide, LAP) indicating dysregulation of the TGF-β pathway in CADASIL development.
Pubmed
25190493
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs