Annotation Detail

Information
Associated Genes
TGFB1
Associated Variants
TGFB1 MUTATION
TGFB1 MUTATION
Associated Disease
Carcinogenesis
Source Database
DisGeNET
Description
Functional enrichment analyses revealed the transcription factor MITF (p < 3.6 × 10(-16)) and growth factor TGFB1 (p < 3.1 × 10(-9)) were the most significantly enriched up-regulators, with MITF being significantly up-regulated, whereas TGFB1 was significantly down-regulated in BRAF (V600E), suggesting that they may mediate tumorigenesis driven by BRAF (V600E).
Pubmed
25890285
Section of the abstract supporting the evidence
METHODS AND RESULTS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
6
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0100433492669712
Drugs