SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Eye Manifestations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		0.010 GeneticVariation phenotype BEFREE One individual did not have any eye findings but presented with a suprasellar teratoma in infancy and was found to have the recurrent c.70del20 mutation in SOX2 (c.70_89del, p.Asn24Argfs*65). 30450772 2018