| | Disease name | Disease category |
| MRXST | H00658 | X-linked syndromic intellectual developmental disorder | Mental and behavioural disorder |
| PARK6 | H00057 | Parkinson disease | Neurodegenerative disease |
| H01600 | Parkinsonian syndrome | Neurodegenerative disease |
| PARK2 | H00057 | Parkinson disease | Neurodegenerative disease |
| H01600 | Parkinsonian syndrome | Neurodegenerative disease |
| FTDALS4 | H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| FTDALS3/PDB3/DMRV | H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| H00437 | Paget disease of bone | Musculoskeletal disease |
| H00594 | Distal myopathy | Nervous system disease |
| ALS12 | H00058 | Amyotrophic lateral sclerosis (ALS) | Neurodegenerative disease |
| GLC1E | H00612 | Primary open angle glaucoma | Nervous system disease |
| CMT2Y/FTDALS6 | H00264 | Charcot-Marie-Tooth disease | Neurodegenerative disease |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| CMT2A2/6 | H00264 | Charcot-Marie-Tooth disease | Neurodegenerative disease |
| OPA1/MTDPS14 | H01020 | Optic atrophy | Nervous system disease |
| H00469 | Mitochondrial DNA depletion syndrome | Inherited metabolic disorder, Mitochondrial disease |
| CMT2B | H00264 | Charcot-Marie-Tooth disease | Neurodegenerative disease |