Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HPS1 Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 1.3E-07 0.636 0.692
OCA2 Q04671 OCA2 melanosomal transmembrane protein 2.9E-13 0.539 0.808
RAB27A P51159 RAB27A, member RAS oncogene family 3.0E-07 0.585 0.692
SLC45A2 Q9UMX9 solute carrier family 45 member 2 Transporter 1.7E-06 0.626 0.538
TYR P14679 tyrosinase Enzyme 5.0E-32 0.473 0.808