Reverse query / human → dog
von Willebrand disease 3.
Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
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 |
|---|---|---|---|---|
| VWF → VWF 3★ anchor | ★★★ ClinVar · 5 P/LP | high-corroborated 86.17% | OMIM 277480 | chr27:7167997 G>AUU_Cfam_GSD_1.0 |
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.