Table 2.
Non-synonymous SNPs within CDS regions of known dog and human disease-associated genes
| Gene namea | Dog chromosome | OMIM accession number | Number of non-synonymous SNPsb | Disease phenotype in humans | Disease-sharing animals |
|---|---|---|---|---|---|
| AGL | chr6 | 610860 | 1 | Glycogen storage disease III a and b | Dog |
| AMN | chr8 | 605799 | 2 | Megaloblastic anaemia-1 | Dog |
| ATP7B | chr22 | 606882 | 1 | Wilson disease | Dog, rat, mouse |
| COL4A5 | chrX | 303630 | 2 | Alport syndrome | Dog |
| COL7A1 | chr20 | 120120 | 2 | EBD inversa, epidermolysis bullosa dystrophica, AD | Dog, mouse |
| CUBN | chr2 | 602997 | 1 | Megaloblastic anaemia-1, Finnish type | Dog |
| DBH | chr9 | 609312 | 2 | Dopamine beta-hydroxylase deficiency | Dog |
| DES | chr37 | 125660 | 1 | Cardiomyopathy, dilated, 1I, myopathy | Dog |
| DMD | chrX | 300377 | 1 | Duchenne muscular dystrophy | Dog |
| DNASE1 | chr6 | 125505 | 1 | Systemic lupus erythematosus susceptibility | Dog |
| FLCN | chr5 | 607273 | 1 | Birt-Hogg-Dube syndrome, colorectal cancer | Dog |
| GUSB | chr6 | 611499 | 2 | Mucopolysaccharidosis VII | Dog |
| HLA-DQB1 | chr12 | 604305 | 3 | Creutzfeldt–Jakob disease | Dog |
| NEFH | chr26 | 162230 | 1 | Amyotrophic lateral sclerosis | Dog |
| NHLRC1 | chr35 | 608072 | 1 | Epilepsy, progressive myoclonic 2B (Lafora) | Dog |
| RPGR | chrX | 312610 | 1 | Cone-rod dystrophy-1, macular degeneration | Dog |
| TCOF1 | chr4 | 606847 | 3 | Treacher Collins syndrome 1 | Dog |
| TNF | chr12 | 191160 | 1 | Asthma, dementia, susceptibility to malaria | Dog |
aThe gene name is common in dogs and humans.
bNon-synonymous SNPs in the Jindo dog genome compared with the boxer genome.