Disease Term Disease ID Gene Symbol References
Albinism C0001916 CACNA1F
LYST 23436631, 25519961, 11857544
EDNRB
HPS1
MC1R
MITF
GPR143 8634705
OCA2
TYR 1970634, 13680365
TYRP1 8651291
AP3B1
AP3D1 26744459
HPS5
SLC45A2
EPG5
HPS6
LRMDA
DTNBP1
HPS4
BLOC1S3