Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.110 GeneticVariation disease BEFREE We describe a novel missense heterozygous OTX2 mutation that acts as a dominant negative inhibitor of target gene expression in a patient with CPHD, pituitary malformation, and optic nerve hypoplasia. 22715480 2012
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.110 Biomarker disease HPO