Reverse query / human → dog

van den Ende-Gupta syndrome.

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

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 1 OMIA-anchored 0 of 1 disease genes modeled MONDO:0010959 ↗

Canine model pathway	Evidence	Ortholog	Human anchor	Canine variant · assembly
SCARF2 OMIA model-of	OMIA-anchored	one2one	—	gene-level (no single variant)

Established genes without a canine model yet

Of the 1 genes GenCC calls an established (Definitive / Strong / Moderate) cause of van den Ende-Gupta syndrome, these 1 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.

SCARF2 Autosomal recessive Definitive

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.