Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
0.020 GeneticVariation disease BEFREE The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. 23171239 2012
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
0.020 Biomarker disease BEFREE The substantial reduction of SLC45A2 protein in the patient's melanocytes caused the mislocalization of tyrosinase from melanosomes to the plasma membrane and also led to the incorporation of tyrosinase into exosomes and secretion into the culture medium, explaining the hypopigmentation in OCA-4. 21677667 2011