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snıff

Reverse query / human → dog

generalized epilepsy with febrile seizures plus, type 2.

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.

1 model pathways 0 OMIA-anchored MONDO:0011461 ↗ OMIM 604403 ↗
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
SCN1A → SCN1A 3★ anchor ★★★ ClinVar · 1 P/LP high-corroborated 97.91% OMIM 604403 chr36:11453818 C>TUU_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.
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.