Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6490
Gene Symbol: PMEL
PMEL
0.010 Biomarker disease BEFREE In all patients with no apparent pathologic mutations in these genes, DNA sequence analysis was performed of a candidate OCA gene, SILV, and the two genes most often involved in Hermansky-Pudlak syndrome, HPS1 and HPS4, the most frequent syndromic form of OCA. 18326704 2008