Aliases: Dnahc5, HL1, PCD, CILD3, KTGNR.
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 |
|---|---|---|
| Primary Ciliary Dyskinesia 3 |
causative
germline
loss of function
CLINGEN: definitive
|
mechanism: Biallelic DNAH5 Loss of Function
|
| Primary_Ciliary_Dyskinesia |
untyped
Pathogenic Variants
|
mechanism: Ciliary Dysfunction; Ciliary Oxidative Stress and Glutathione Response; Nodal Ciliary Motility Defect
animal model: Mouse
dataset: geo:GSE272189
|
| Visceral heterotaxy |
untyped
Ciliary overlap gene
|
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 3 MONDO:0012085 | AR | Definitive 2022-01-07 |
Primary Ciliary Dyskinesia 3
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.