SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.110 AlteredExpression phenotype BEFREE Together, these results indicate that Sox2 is required for the maintenance of the transmission of visual information from cones and rods, and suggest that decline in Sox2 expression is responsible for retinal cell aging and age-related vision loss. 30613351 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.110 Biomarker phenotype HPO