Previous symbols: DKC. Aliases: XAP101, dyskerin, NAP57, NOLA4, Cbf5.
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 |
|---|---|---|
| Dyskeratosis Congenita | causative germline |
mechanism: Impaired Telomere Maintenance
subtype: DKC1
scoped to subtype: DKC1
|
| Inherited Aplastic Anemia |
untyped
Dyskerin pseudouridine synthase, mutated in X-linked dyskeratosis congenita
germline
|
scoped to subtype: Dyskeratosis Congenita
|
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 |
|---|---|---|---|
| dyskeratosis congenita, X-linked MONDO:0010584 | XL | Definitive 2025-09-22 |
Dyskeratosis Congenita
causative
|
| DKC1-related disorder MONDO:0100152 | XL | Definitive 2020-06-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.