PDE6C

phosphodiesterase 6C

2 disorders 2 causative 10q23.33 gene with protein product

HGNC:8787 Monarch NCBI Gene 5146 ENSG00000095464 UniProt P51160 OMIM 600827

Aliases: PDEA2, ACHM5, COD4.

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
Achromatopsia	causative germline	mechanism: Cone PDE6 Catalytic-Subunit Deficiency subtype: ACHM5 scoped to subtype: ACHM5
Cone Dystrophy	causative germline

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
PDE6C-related retinopathy MONDO:1040028	AR	Definitive 2023-11-02	no dismech entry

Mechanism modules · computed from kb/

phototransduction_cascade_dysfunction via Achromatopsia

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