Reverse query / human → dog

pulmonary arterial hypertension.

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 pathway 0 OMIA-anchored 1 of 15 disease genes modeled MONDO:0015924 ↗

Canine model pathway	Evidence	Ortholog	Human anchor	Canine variant · assembly
BMPR2 → BMPR2 3★ anchor	★★★ ClinVar · 11 P/LP	high-corroborated 96.92%	—	chr37:11387725 C>AUU_Cfam_GSD_1.0

Established genes without a canine model yet

Of the 15 genes GenCC calls an established (Definitive / Strong / Moderate) cause of pulmonary arterial hypertension, these 14 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.

ATP13A3 Semidominant Definitive CAV1 Autosomal dominant Definitive GDF2 Autosomal dominant Definitive KCNK3 Autosomal dominant Definitive KDR Autosomal dominant Definitive SMAD9 Autosomal dominant Definitive SOX17 Autosomal dominant Definitive TBX4 Autosomal dominant Definitive ABCC8 Autosomal dominant Strong AQP1 Autosomal dominant Moderate BMP10 Autosomal dominant Moderate BMPR1B Autosomal dominant Moderate GGCX Autosomal dominant Moderate TET2 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.