OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex
0.310 GeneticVariation disease BEFREE OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex
0.310 GermlineModifyingMutation disease ORPHANET OTX2 mutations contribute to the otocephaly-dysgnathia complex. 22577225 2012