Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0