Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 MUTATION
TP53 MUTATION - Associated Disease
- neurofibromatosis 1
- Source Database
- DisGeNET
- Description
- The most common predisposition syndromes include germline TP53 mutations and constitutive alterations in RAS pathway activation, such as Costello syndrome, Noonan syndrome and neurofibromatosis type 1.
- Pubmed
- 25893277
- Section of the abstract supporting the evidence
- BACKGROUND
- 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
- DisGENET score for the Gene Disease association
- 0.00352874433704394
Drugs