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. The rows above are the characterized
pathways, human genes of this disease with a canine model in our substrate.
The panel of established genes is joined from GenCC, so covered and uncovered genes are both named. A gene can still be a cause of this disease at below-established validity, or through a mechanism no gene panel captures.