OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND The human homeodomain protein OTX2 binds to the human tenascin-C promoter and trans-represses its activity in transfected cells. 9174161 1997