Aliases: DAN.
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: PARN
scoped to subtype: PARN
|
| Dyskeratosis Congenita Autosomal Recessive 6 | causative | |
| Idiopathic Pulmonary Fibrosis | causative |
mechanism: Alveolar epithelial telomere dysfunction
|
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 |
|---|---|---|---|
| pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612 | SD | Definitive 2024-10-25 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.