OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Retinoblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 Biomarker disease BEFREE Our results demonstrate that HIWI2 is aberrantly expressed in Y79 cells and silencing of HIWI2 downregulates OTX2, suggesting that HIWI2 might play a role in the progression of RB. 28861107 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 AlteredExpression disease BEFREE Loss of OTX2 expression also resulted in decreased expression of C-MYC and CRX, genes previously implicated in retinoblastoma tumorigenesis. 26397460 2015
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.030 AlteredExpression disease BEFREE Widespread expression of CRX and OTX2 in retinoblastoma tumors and cell lines suggests a close link between the cell-of-origin of retinoblastoma tumors and cells expressing CRX and OTX2. 19686387 2009