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 |
|---|---|---|
| Autosomal Agammaglobulinemia | causative germline |
mechanism: Impaired Membrane Mu Heavy-Chain Expression
subtype: AGM1
scoped to subtype: AGM1
|
| Heavy Chain Disease | somatic driver somatic |
mechanism: Somatic Immunoglobulin Heavy Chain Gene Deletion
scoped to subtype: Mu-HCD
|
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 |
|---|---|---|---|
| autosomal recessive agammaglobulinemia 1 MONDO:0020729 | AR | Definitive 2021-06-15 |
Autosomal Agammaglobulinemia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.