Source: ORPHANET

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: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
Ovotesticular Disorders of Sex Development
disease 0.800 strong 1.000 2 0 1992 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
disease 0.500 None 0.889 2 0 1992 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0018055
Disease: Gonadal Dysgenesis, Mixed
Gonadal Dysgenesis, Mixed
disease 0.360 None 1.000 1 0 1992 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis
disease 0.310 None 1.000 1 0 2007 2010