Annotation Detail
Information
- Associated Genes
- TP63
- Associated Variants
-
TP63 MUTATION
TP63 MUTATION - Associated Disease
- Hay-Wells syndrome
- Source Database
- DisGeNET
- Description
- Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic cause of AEC.
- Pubmed
- 24665072
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.447328930546168
Drugs