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 |