OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Goldenhar Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		0.020 Biomarker disease BEFREE OTX2 duplication is implicated in hemifacial microsomia. 24816892 2014
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		0.020 Biomarker disease BEFREE We propose that the increased dosage of SIX1, SIX6, or OTX2 may be responsible for the BOR and OAVS-like features in this family. 18666230 2008