Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 MUTATION
PIK3R1 MUTATION - Associated Disease
- Lipoatrophy
- Source Database
- DisGeNET
- Description
- PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Thauvin-Robinet et al.
- Pubmed
- 24033310
- 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
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs