Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ocular coloboma (disorder)
0.110 GeneticVariation disease BEFREE This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1. 24859618 2014
Congenital ocular coloboma (disorder)
0.110 Biomarker disease HPO