Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
CUI: C0001916
Disease: Albinism
Albinism 		0.410 Biomarker GENOMICS_ENGLAND AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10. 26744459

2016