Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ocular coloboma (disorder)
0.130 GeneticVariation disease BEFREE Given the involvement of ABCB6 mutations in coloboma, we performed ophthalmological examination of the DUH carriers of ABCB6 mutations and found ocular abnormalities in them. 24498303 2014
Congenital ocular coloboma (disorder)
0.130 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)
0.130 GeneticVariation disease BEFREE Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. 22226084 2012
Congenital ocular coloboma (disorder)
0.130 Biomarker disease HPO