| | Disease name | Disease category |
| KSHV | H00041 | Kaposi sarcoma | Cancer |
| SCA3 | H00063 | Spinocerebellar ataxia (SCA) | Neurodegenerative disease |
| NBIA5 | H00833 | Neurodegeneration with brain iron accumulation | Nervous system disease |
| NEDSBAS | H02861 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | Congenital malformation |
| FTDALS1 | H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| SPGF101 | H01282 | Spermatogenic failure | Reproductive system disease |
| SCAR31 | H01891 | Autosomal recessive spinocerebellar ataxias | Neurodegenerative disease |
| SCAR25 | H01891 | Autosomal recessive spinocerebellar ataxias | Neurodegenerative disease |
| IBD10 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| Shigella | H00299 | Shigellosis | Bacterial infectious disease |
| PDB3/DMRV/FTDALS3 | H00437 | Paget disease of bone | Musculoskeletal disease |
| H00594 | Distal myopathy | Nervous system disease |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| ALS12 | H00058 | Amyotrophic lateral sclerosis (ALS) | Neurodegenerative disease |
| GLC1E | H00612 | Primary open angle glaucoma | Nervous system disease |
| SCAR15 | H01891 | Autosomal recessive spinocerebellar ataxias | Neurodegenerative disease |
| EPM2A | H00810 | Progressive myoclonic epilepsy | Nervous system disease |
| EPM2B | H00810 | Progressive myoclonic epilepsy | Nervous system disease |
| CEDNIK | H00799 | CEDNIK syndrome | Congenital malformation |
| CMT2B | H00264 | Charcot-Marie-Tooth disease | Neurodegenerative disease |
| HLD12/DYT32 | H00679 | Hypomyelinating leukodystrophy | Inherited metabolic disorder |
| H00831 | Primary dystonia | Nervous system disease |
| HSAN9 | H00265 | Hereditary sensory and autonomic neuropathy | Nervous system disease |
| DD | H00150 | Danon disease | Inherited metabolic disorder, Lysosomal disease |
Network variation - Autophagy