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Reverse query / human → dog

complex neurodevelopmental disorder.

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 0 OMIA-anchored 0 of 193 disease genes modeled MONDO:0100038 ↗
Evidence
Canine model pathway Evidence Ortholog Human anchor Canine variant · assembly
SCN8A → SCN8A 3★ anchor ★★★ ClinVar · 3 P/LP high-corroborated 99.24% — chr27:43476519 G>TUU_Cfam_GSD_1.0
SCN2A → SCN2A 3★ anchor ★★★ ClinVar · 5 P/LP high-corroborated 98.7% — chr36:10833381 C>TUU_Cfam_GSD_1.0

Established genes without a canine model yet

Of the 193 genes GenCC calls an established (Definitive / Strong / Moderate) cause of complex neurodevelopmental disorder, these 40 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.

AGO1 Autosomal dominant Definitive ANK2 Autosomal dominant Definitive AP2M1 Autosomal dominant Definitive BRSK2 Autosomal dominant Definitive CACNA1D Autosomal dominant Definitive CAMK2A Autosomal dominant Definitive CC2D1A Autosomal recessive Definitive CHAMP1 Autosomal dominant Definitive CHD2 Autosomal dominant Definitive CHD8 Autosomal dominant Definitive CIC Autosomal dominant Definitive CNOT1 Autosomal dominant Definitive CNOT3 Autosomal dominant Definitive CNTN2 Autosomal recessive Definitive CNTNAP2 Autosomal recessive Definitive CSDE1 Autosomal dominant Definitive CUL3 Autosomal dominant Definitive CYFIP2 Autosomal dominant Definitive DIP2C Autosomal dominant Definitive DLG4 Autosomal dominant Definitive DYRK1A Autosomal dominant Definitive EEF1A2 Autosomal dominant Definitive EZH1 Autosomal recessive Definitive FRYL Autosomal dominant Definitive GABRB2 Autosomal dominant Definitive GIGYF1 Autosomal dominant Definitive GNAI1 Autosomal dominant Definitive GRIK2 Autosomal dominant Definitive GRIN1 Autosomal dominant Definitive GRIN2A Autosomal dominant Definitive GRIN2B Autosomal dominant Definitive GRIN2D Autosomal dominant Definitive HCN2 Autosomal recessive Definitive HECW2 Autosomal dominant Definitive HNRNPD Autosomal dominant Definitive HNRNPU Autosomal dominant Definitive IQSEC2 X-linked Definitive KCNB1 Autosomal dominant Definitive KCNC1 Autosomal dominant Definitive KCNQ2 Autosomal dominant Definitive

This is a broad disease category; showing the top established genes by validity. The full panel is larger.

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.