Reverse query / human → dog
glycogen storage disease VII.
Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.
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 |
|---|---|---|---|---|
| PFKM → PFKM 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.