Skip to main content
. 2023 Aug 15;24:187. doi: 10.1186/s13059-023-03023-7

Table 2.

Dog10K samples with likely causal homozygous genotypes for autosomal recessive diseases, risk factors, or traits

Trait OMIA ID Gene Homozygous samples (N) Dog10K breeds or village dogs carriers
Lens luxation 000588–9615 ADAMTS17 1 American Toy Terrier
Persistent Mullerian duct syndrome 000791–9615 AMHR2 1 Miniature Schnauzer
Laryngeal paralysis and polyneuropathy 002301–9615 CNTNAP1 1 Pyrenean Shepherd
Exercise-induced collapse 001466–9615 DNM1 2 Curly Coated Retriever
Dwarfism, growth-hormone deficiency 001473–9615 GH1 6 Bolonka, Brussel Griffon, Petit Brabancon Griffon
Lundehund syndrome 002031–9615 P3H2 4 Norwegian Lundehund
Ichthyosis, PNPLA1-related 001588–9615 PNPLA1 2 Golden Retriever
Progressive rod-cone degeneration 001298–9615 PRCD 4 Australian Cattle Dog, Entlebucher Mountain Dog, Portuguese Podengo, Swedish White Elkhound
Hypotrichosis, recessive 001279–9615 SGK3 4 American Hairless Terrier
Urolithiasis 001033–9615 SLC2A9 6 Dalmatian, Majorca Mastiff
Oculocutaneous albinism, type IV 001821–9615 SLC45A2 1 Bullmastiff
Degenerative myelopathy (risk factor) 000263–9615 SOD1 22 many (incl. village dogs)
Thrombocytopenia, TUBB1-related 002434–9615 TUBB1 2 Norfolk Terrier
Von Willebrand disease I 001057–9615 VWF 2 Kromfohrländer
Von Willebrand disease II 001339–9615 VWF 4 Boykin Spaniel, German Spitz