Disease: Ocular albinism, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.020 Biomarker disease BEFREE Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). 30679655 2019
CUI: C0342684
Disease: Ocular albinism, type I
Ocular albinism, type I 		0.020 Biomarker disease BEFREE In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). 27734839 2017