| Erkrankung | Gen(e) |
|---|---|
| Budd-Chiari Syndrom | JAK2 F5 |
| CHARGE Syndrom | CHD7 SEMA3E |
| Hermansky-Pudlak Syndrom | AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 LYST |
| Keutel Syndrom | MGP |
| Legius Syndrom | SPRED1 |
| LEOPARD Syndrom | BRAF PTPN11 RAF1 |
| Lowe Syndrom | OCRL |
| McCune-Albright Syndrom | GNAS |
| Medulläre Nierenzysten | MUC1 NPHP1 UMOD |
| Neurofibromatose 1 | NF1 |
| Neurofibromatose 2 | NF2 |
| Polyzystische Nierenerkrankung | PKD1 PKD2 |
| Progerie | BANF1 ERCC8 LMNA PTDSS1 WRN |
| Waardenburg Syndrom | EDN3 EDNRB MITF PAX3 SNAI2 SOX10 TYR |