Annotation Detail
Information
- Associated Genes
- IFNGR1
- Associated Variants
-
IFNGR1 MUTATION
IFNGR1 MUTATION - Associated Disease
- Hypergammaglobulinemia
- Source Database
- DisGeNET
- Description
- IFN-γ inhibited cTFH cell function in vitro and in vivo, as corroborated by hypergammaglobulinemia in patients with IFNGR1/2, STAT1, and IL12RB1 LOF mutations.
- Pubmed
- 26162572
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 9
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs