Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4948
Gene Symbol: OCA2
OCA2 		OCA2 melanosomal transmembrane protein 0.539 0.808 2.9E-13
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease 0.010 None 1.000 1 0 2004 2004