| | Disease name | Disease category |
| HIGM5 | H00086 | Immunodeficiency with hyper-IgM | Immune system disease |
| GC/FAP2 | H00018 | Gastric cancer | Cancer |
| H01025 | Familial adenomatous polyposis | Neoplasm |
| TPDS2 | H02624 | Tumor predisposition syndrome | Cancer |
| RCC | H00021 | Renal cell carcinoma | Cancer |
| FAP3 | H01025 | Familial adenomatous polyposis | Neoplasm |
| SCAR26 | H01891 | Autosomal recessive spinocerebellar ataxias | Neurodegenerative disease |
| CONDSIAS | H02572 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | Nervous system disease |
| AOA4 | H00848 | Ataxia with ocular apraxia | Nervous system disease |
| SCAN1 | H02573 | Autosomal recessive spinocerebellar ataxias with axonal neuropathy | Neurodegenerative disease |
| PPAP/MDPL | H02568 | Polymerase proofreading-associated polyposis | Cancer |
| H01623 | MDPL syndrome | Congenital malformation |
| IMD122 | H00091 | T-B+Severe combined immunodeficiency | Primary immunodeficiency |
| PPAP/IMAGE/FILS | H02568 | Polymerase proofreading-associated polyposis | Cancer |
| H02369 | IMAGE-I syndrome | Congenital malformation |
| H02370 | FILS syndrome | Congenital malformation |
| CANVAS | H02366 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | Nervous system disease |
| LIG1D | H00094 | Immunodeficiency associated with DNA repair defects | Primary immunodeficiency |
| AOA1 | H00848 | Ataxia with ocular apraxia | Nervous system disease |
| MNGIE/MTDPS4/PEOA1 | H01390 | Mitochondrial neurogastrointestinal encephalomyopathy | Inherited metabolic disorder, Mitochondrial disease |
| H00469 | Mitochondrial DNA depletion syndrome | Inherited metabolic disorder, Mitochondrial disease |
| H01118 | Progressive external ophthalmoplegia | Nervous system disease |
| MTDPS16/PEOA4 | H00469 | Mitochondrial DNA depletion syndrome | Inherited metabolic disorder, Mitochondrial disease |
| H01118 | Progressive external ophthalmoplegia | Nervous system disease |
| MNGIE | H01390 | Mitochondrial neurogastrointestinal encephalomyopathy | Inherited metabolic disorder, Mitochondrial disease |