ErkrankungGen(e)
AlbinismusC10orf11 OCA2 OCA2 SLC24A5 SLC24A5 SLC45A2 TYR TYRP1
Amelogenesis imperfectaWDR72 C4orf26 DLX3 AMELX FAM83H ENAM ENAM KLK4 MMP20
AngioödemXPNPEP2 F12 C1NH
Cleft lip/palate-ectodermal dysplasia syndrome PVRL1/HVEC
DyschromatosisKRT5 POFUT1 POGLUT1 ADAR ADAM10
Ectodermal dysplasia-syndactyly syndrome 1 PVRL4
Ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome 3 TP63
Ektodermale DysplasieED1 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 SyndromAP3B1 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 hämorrhagischACVRL1 ENG GDF2
Telangiectasia hämorragischACVRL1 ENG GDF2
ZahnagenesieMSX1 PAX9 WNT10A LTBP3 ED1