Disease Term Disease ID Gene Symbol Classification References Source
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells C2931875 DTNBP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HPS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7573033, 8896559, 9256466, 9497254, 9562579, 9705234, 10971344, 12756248, 12847290, 15952982, 16185271, 17365864, 20514622, 25468649, 25707719, 26806224, 27593200, 27942505, 29190429 -