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Reverse query / human → dog

autosomal recessive spastic paraplegia type 76.

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

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 1 OMIA-anchored MONDO:0014827 ↗
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
CAPN1 → CAPN1 OMIA model-of OMIA-anchored one_to_one 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.