Aliases: BTBD25.
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 |
|---|---|---|
| Celiac Disease | susceptibility | |
| Immunodeficiency 60 | causative germline loss of function |
mechanism: BACH2 Protein Destabilization
|
| Type I Diabetes | susceptibility germline | |
| Addison's Disease |
untyped
Transcription factor controlling B- and T-cell differentiation
|
mechanism: Polygenic Susceptibility
|
| Ankylosing Spondylitis |
untyped
GWAS
|
|
| Asthma |
untyped
GWAS
|
|
| Atopic Dermatitis |
untyped
GWAS
|
|
| Crohn Disease |
untyped
GWAS
|
|
| Multiple Sclerosis |
untyped
GWAS
|
|
| Psoriasis |
untyped
GWAS
|
|
| Rheumatoid Arthritis |
untyped
GWAS
|
|
| Systemic Lupus Erythematosus |
untyped
GWAS
|
|
| Ulcerative Colitis |
untyped
GWAS
|
mechanism: Dysregulated Immune Response
|
| Vitiligo |
untyped
Associated
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| immunodeficiency 60 MONDO:0032723 | AD | Moderate 2023-02-21 |
Immunodeficiency 60
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.