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CFAP221

cilia and flagella associated protein 221
2 disorders 1 untyped 1 unknown 2q14.2 gene with protein product
HGNC:33720MonarchNCBI Gene 200373ENSG00000163075UniProt Q4G0U5OMIM 618704

Aliases: FAP221, PCDP1.

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
Young Syndrome unknown
mechanism: Central Apparatus C1d Projection Defect
Primary_Ciliary_Dyskinesia untyped
Pathogenic Variants
mechanism: Central-Apparatus Transport Dysfunction
dataset: geo:GSE254100
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 MONDO:0016575 AR Definitive
2025-12-16

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