| | Disease name | Disease category |
| SGMRT2 | H01571 | Singleton-Merten syndrome | Congenital malformation |
| IIAE5 | H02536 | Infection-induced acute encephalopathy | Nervous system disease |
| IAV | H00398 | Influenza | Viral infectious disease |
| HSV | H00365 | Herpes simplex virus infection | Viral infectious disease |
| MV | H00394 | Measles | Viral infectious disease |
| HCV | H00048 | Hepatocellular carcinoma | Cancer |
| HBV | H00048 | Hepatocellular carcinoma | Cancer |
| SARS-CoV-2 | H02398 | COVID-19 | Viral infectious disease |
| EBV | H00008 | Burkitt lymphoma | Cancer |
| H00007 | Hodgkin lymphoma | Cancer |
| H00054 | Nasopharyngeal cancer | Cancer |
| AGS7/SGMRT1 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| H01571 | Singleton-Merten syndrome | Congenital malformation |
| IMD95 | H02525 | Disorders of innate immunity | Immune system disease |
| IMD91 | H02525 | Disorders of innate immunity | Immune system disease |
| Tenorio syndrome | H01806 | Tenorio syndrome | Congenital malformation |
| AGS6/DSH | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| H00880 | Dyschromatosis symmetrica hereditaria | Skin disease |