Reverse query / human → dog
pyruvate kinase deficiency of red cells.
A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
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 |
|---|---|---|---|---|
| PKLR OMIA model-of | OMIA-anchored | one2one | — | gene-level (no single variant) |
| — OMIA model-of | OMIA-anchored | one2one | — | gene-level (no single variant) |
Established genes without a canine model yet
Of the 1 genes GenCC calls an established (Definitive / Strong / Moderate) cause of pyruvate kinase deficiency of red cells, these 1 do not have a canine natural model in our substrate yet. Not "no dog carries this", a stated gap in what we hold, the honest frontier of the reverse query.
Gene-disease validity from GenCC (thegencc.org, CC0), the established tail across ClinGen, OMIM, Orphanet, and others. Each gene links to its Sniff lookup, where the human ortholog and any canine evidence we hold are shown, gene-level (INV-57).