SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Disease: Autosomal dominant oculocutaneous albinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268499
Disease: Autosomal dominant oculocutaneous albinism
Autosomal dominant oculocutaneous albinism 		0.010 GeneticVariation disease BEFREE We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. 28192564 2017