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snıff

Reverse query / human → dog

congenital factor XI deficiency.

Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.

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.

2 model pathways 2 OMIA-anchored MONDO:0012897 ↗
Evidence
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
F11 OMIA model-of OMIA-anchored no_human_ortholog gene-level (no single variant)
OMIA model-of OMIA-anchored one2one 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.
A candidate model is a computational hypothesis (gene-level model-of, INV-57), never a confirmed model; confirmation is DNA plus phenotype, in the lab. Canine coordinates are on UU_Cfam_GSD_1.0 and carry their assembly (no cross-assembly comparison without a scored liftover). Sources: OMIA, ClinVar (Landrum 2018), Ensembl Compara orthology, Mondo. Ranked by evidence strength within this human disease.