Reverse query / human → dog
Alexander disease.
Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.
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 |
|---|---|---|---|---|
| GFAP → GFAP 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.