Aliases: AB073614.
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 |
|---|---|---|
| aceruloplasminemia |
untyped
Loss of function mutation
|
mechanism: Ceruloplasmin ferroxidase deficiency
diagnosis: CP molecular genetic testing
|
| Neurodegeneration With Brain Iron Accumulation | no genetic record |
mechanism: Genetic pathway heterogeneity
subtype: Aceruloplasminemia
|
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 |
|---|---|---|---|
| aceruloplasminemia MONDO:0011426 | AR | Definitive 2025-11-26 |
aceruloplasminemia
untyped
Neurodegeneration With Brain Iron Accumulation
no genetic record
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.