Annotation Detail

Information
Associated Genes
IFNGR1
Associated Variants
IFNGR1 MUTATION
IFNGR1 MUTATION
Associated Disease
Primary immune deficiency disorder
Source Database
DisGeNET
Description
Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD).
Pubmed
25216720
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