OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Disease: Myopic traction maculopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552411
Disease: Myopic traction maculopathy
Myopic traction maculopathy 		0.010 GeneticVariation disease BEFREE OCA2 mutations were primarily observed in patients with myopic traction maculopathy. 30747064 2018