OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		0.010 GeneticVariation disease BEFREE Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy. 26165494 2015