In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Primary Ciliary Dyskinesia 7 causative germline loss of function
CLINGEN: definitive
mechanism: Biallelic DNAH11 Loss of Function
Primary_Ciliary_Dyskinesia untyped
Pathogenic Variants
mechanism: Ciliary Dysfunction; Nodal Ciliary Motility Defect
subtype: CILD7
scoped to subtype: CILD7
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
primary ciliary dyskinesia 7 MONDO:0012748 AR Definitive
2021-10-25
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.