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 |
|---|---|---|
| Common Variable Immunodeficiency | causative |
mechanism: B Cell Coreceptor Complex Failure
subtype: CVID3
scoped to subtype: CVID3
|
| Mixed Phenotype Acute Leukemia | no genetic record |
mechanism: Cross-Lineage Antigen Co-expression
|
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, common variable, 3 MONDO:0013283 | AR | Definitive 2022-05-24 |
Common Variable Immunodeficiency
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.