RPE65
RPE65 is a gene catalogued in the canine genome. Below are the inherited conditions OMIA links to it in dogs, its human counterpart, and its canonical records across the genomics world.
The inherited conditions OMIA associates with RPE65 in dogs. Each links to the full record.
RPE65 as it is catalogued across the genomics world. Each link is the canonical record, so this gene composes with everything those resources know.
In humans, this gene's counterpart is RPE65. That ortholog is what connects RPE65 to a century of human medical genetics. The dog and human proteins are 99% identical.
In people, RPE65 appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.00). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms.
In people, variants in the RPE65 gene are classified as pathogenic in ClinVar for 11 expert-reviewed conditions.
In dogs, 16 of 1,482 Dog10K variants in this gene sit at a position kept conserved across 241 mammals (the exhaustive scan), candidates worth a closer look, never a diagnosis.
Dog and human evidence are symmetric here, a validated cross-species footprint. Coverage, not importance. D = 1 dog vs H = 1 human cited disease channels.
Lookup and discovery are candidate-framed research surfaces. Classification renders AVCG grades we cite; Sniff does not score variants with a model of its own.
Per-breed allele frequencies across the atlas are surfaced for the trait loci Sniff has verified a direction-of-effect for. For RPE65 we show the cited identity and disease associations, and we would rather show you exactly that than a frequency we cannot yet interpret honestly. See the gene catalog for trait loci with frequency views and every disease-linked gene page.
Gene identity and disease associations are grounded in OMIA (CC-BY) and the open Sniff Atlas. Full citation formats at sniff.world/cite.