Previous symbols: DYX1C1. Aliases: EKN1, FLJ37882, CILD25, pf23.
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 |
|---|---|---|
| Dyslexia | susceptibility germline | |
| Primary_Ciliary_Dyskinesia | causative |
mechanism: Cytoplasmic Dynein Arm Preassembly Failure
subtype: CILD25
scoped to subtype: CILD25
|
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 |
|---|---|---|---|
| primary ciliary dyskinesia 25 MONDO:0014203 | AR | Definitive 2024-04-11 |
Primary_Ciliary_Dyskinesia
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.