Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 MUTATION
PIK3R1 MUTATION - Associated Disease
- SHORT syndrome
- Source Database
- DisGeNET
- Description
- Autosomal dominant PIK3R1 mutations cause SHORT syndrome.
- Pubmed
- 24033310
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.361085767488321
Drugs