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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 0 of 1 disease genes modeled 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)

Established genes without a canine model yet

Of the 1 genes GenCC calls an established (Definitive / Strong / Moderate) cause of congenital factor XI deficiency, 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).

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.
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.