Aliases: PRO1557, PRO2086.
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 |
|---|---|---|
| Atransferrinemia | causative |
animal model: Mouse; Zebrafish
|
| Chuvash Polycythemia | modifier germline |
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 |
|---|---|---|---|
| atransferrinemia MONDO:0008846 | AR | Moderate 2025-09-26 |
Atransferrinemia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.