Reverse query / human → dog

Noonan syndrome.

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 2 of 14 disease genes modeled MONDO:0018997 ↗

Evidence

Canine model pathway	Evidence	Ortholog	Human anchor	Canine variant · assembly
RAF1 → RAF1 3★ anchor	★★★ ClinVar · 6 P/LP	high-corroborated 98.77%	—	chr20:6040929 C>TUU_Cfam_GSD_1.0
BRAF → BRAF 3★ anchor	★★★ ClinVar · 8 P/LP	high-corroborated 97.52%	—	chr16:8084854 G>AUU_Cfam_GSD_1.0

Established genes without a canine model yet

Of the 14 genes GenCC calls an established (Definitive / Strong / Moderate) cause of Noonan syndrome, these 12 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.

KRAS Autosomal dominant Definitive LZTR1 Autosomal recessive Definitive NRAS Autosomal dominant Definitive PTPN11 Autosomal dominant Definitive RIT1 Autosomal dominant Definitive RRAS2 Autosomal dominant Definitive SOS1 Autosomal dominant Definitive SOS2 Autosomal dominant Definitive ERF Autosomal dominant Strong MRAS Autosomal dominant Moderate RASA2 Autosomal dominant Moderate RRAS Autosomal dominant Moderate

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.