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 syndromePVRL1/HVEC
DyschromatosisKRT5 POFUT1 POGLUT1 ADAR ADAM10
Ectodermal dysplasia-syndactyly syndrome 1PVRL4
Ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome 3TP63
Ektodermale DysplasieED1 EDAR EDAR EDARADD EDARADD GJB6 MSX1 KRT85 HOXC13 IKBKG NFKBIA IKBKG
Ektrodaktylie ED und LippenspalteTP63
Gutartiger chronischee Pemphigus /Hailey-Hailey
Hailey-Hailey diseaseATP2C1
Hermansky Pudlak SyndromAP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4 HPS5 HPS6 LYST
Incontinentia pigmenti type IIIKBKG
Odontoonychodermale DysplasieWNT10A
Oligodontie-Darmkrebs SyndromAXIN2
Osler-Weber-Krankheit /Teleangiektasie hämorrhagischACVRL1 ENG GDF2
Telangiectasia hämorragischACVRL1 ENG GDF2
ZahnagenesieMSX1 PAX9 WNT10A LTBP3 ED1


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