Reverse query / human → dog
congenital myasthenic syndrome 5.
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.
| Canine model pathway | Evidence | Ortholog | Human anchor | Canine variant · assembly |
|---|---|---|---|---|
| LOC608697 → COLQ OMIA model-of | OMIA-anchored | one_to_one | — | gene-level (no single variant) |
The boundary of this model. These are the characterized pathways,
human genes of this disease that have a canine model in our substrate. A human disease can involve genes
with no canine model yet; enumerating those unmapped pathways as explicit
abstentions lands with the ClinGen / GenCC human gene-disease validity map (Phase 2). Until then we show
what we hold and state that it may be incomplete, rather than imply full coverage.