Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION - Associated Disease
- squamous cell carcinoma
- Source Database
- DisGeNET
- Description
- For C/EBPβ, only the abundant full-length isoform (C/EBPβ-1, LAP*, 55 kD) was reduced, whereas the smaller isoforms, C/EBPβ-2 (LAP, 48 kD) and C/EBPβ-3 (LIP, 20 kD), which are predominantly nuclear, were significantly increased in well- and moderately-differentiated SCC (up to 14-fold for C/EBPβ-3).
- Pubmed
- 25402211
- 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
- 9
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.165160004113623
Drugs