CEP164

centrosomal protein 164

2 disorders 1 untyped 1 causative 11q23.3 gene with protein product

HGNC:29182 Monarch NCBI Gene 22897 ENSG00000110274 UniProt Q9UPV0 OMIM 614848

Aliases: KIAA1052, NPHP15.

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.

Disorder	Relationship	Where the gene appears
Senior-Loken Syndrome	causative	mechanism: Ciliary Transition Zone Dysfunction
Nephronophthisis	untyped Pathogenic Variants	mechanism: Ciliary Dysfunction; DNA Damage and Senescence; Distal Appendage Docking Failure subtype: CEP164-related scoped to subtype: CEP164-related

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 disease	MOI	Classification	dismech entry
CEP164-related ciliopathy MONDO:0700344	AR	Definitive 2021-10-27	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Nephronophthisis, Senior-Loken Syndrome

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