| Erkrankung | Gen(e) |
|---|
| Albinismus | C10orf11 OCA2 OCA2 SLC24A5 SLC24A5 SLC45A2 TYR TYRP1 |
| Amelogenesis imperfecta | WDR72 C4orf26 DLX3 AMELX FAM83H ENAM ENAM KLK4 MMP20 |
| Angioödem | XPNPEP2 F12 C1NH |
| Cleft lip/palate-ectodermal dysplasia syndrome | PVRL1/HVEC |
| Dyschromatosis | KRT5 POFUT1 POGLUT1 ADAR ADAM10 |
| Ectodermal dysplasia-syndactyly syndrome 1 | PVRL4 |
| Ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome 3 | TP63 |
| Ektodermale Dysplasie | ED1 EDAR EDAR EDARADD EDARADD GJB6 MSX1 KRT85 HOXC13 IKBKG NFKBIA IKBKG |
| Ektrodaktylie ED und Lippenspalte | TP63 |
| Gutartiger chronischee Pemphigus /Hailey-Hailey |
| Hailey-Hailey disease | ATP2C1 |
| Hermansky Pudlak Syndrom | AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 LYST |
| Incontinentia pigmenti type II | IKBKG |
| Odontoonychodermale Dysplasie | WNT10A |
| Oligodontie-Darmkrebs Syndrom | AXIN2 |
| Osler-Weber-Krankheit /Teleangiektasie hämorrhagisch | ACVRL1 ENG GDF2 |
| Telangiectasia hämorragisch | ACVRL1 ENG GDF2 |
| Zahnagenesie | MSX1 PAX9 WNT10A LTBP3 ED1 |