Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 MUTATION
AKT1 MUTATION - Associated Disease
- Proteus syndrome
- Source Database
- DisGeNET
- Description
- Proteus syndrome is caused by an activating AKT1 mutation (c.49G>A, p.Glu17Lys).
- Pubmed
- 23992099
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.360814325616241
Drugs