Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001916
Disease: Albinism
Albinism
0.410 Biomarker disease GENOMICS_ENGLAND AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. 26744459 2016
CUI: C0001916
Disease: Albinism
Albinism
0.410 Biomarker disease BEFREE AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. 26744459 2016
CUI: C0001916
Disease: Albinism
Albinism
0.410 Biomarker disease HPO