ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Disabling Pansclerotic Morphea of Childhood | causative germline gain of function |
mechanism: STAT4 SH2-Domain Gain-of-Function Signaling
|
| Invasive Non-Typhoidal Salmonellosis | susceptibility | |
| Addison's Disease |
untyped
Transcription factor promoting Th1 differentiation
|
mechanism: Polygenic Susceptibility
|
| Coccidioidomycosis |
untyped
Transcription factor for IL-12 signaling; E626G mutation increases susceptibility
|
mechanism: Th1/Th17 cell-mediated adaptive immunity
|
| Rheumatoid Arthritis |
untyped
Associated with increased risk
|
mechanism: JAK/STAT Signaling
|
| Sjogren's Syndrome |
untyped
Risk Factor
|
|
| Systemic Lupus Erythematosus |
untyped
Associated
|
|
| Systemic Sclerosis |
untyped
Risk Factor
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.