Aliases: CARMA1, BIMP3.
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 |
|---|---|---|
| Cold Agglutinin Disease | somatic driver somatic |
mechanism: Somatic KMT2D and CARD11 Mutation in the CAD B-Cell Clone
|
| Immunodeficiency 11B with Atopic Dermatitis | causative | |
| Primary Central Nervous System Lymphoma | causative somatic | |
| Severe Combined Immunodeficiency Due To CARD11 Deficiency | causative germline loss of function |
mechanism: Biallelic CARD11 Loss of Function
|
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 |
|---|---|---|---|
| severe combined immunodeficiency due to CARD11 deficiency MONDO:0014081 | AR | Definitive 2022-03-15 |
|
| BENTA disease MONDO:0014645 | AD | Definitive 2022-03-15 |
no dismech entry |
| immunodeficiency 11b with atopic dermatitis MONDO:0054697 | AD | Definitive 2022-03-15 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.