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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
disease 0.740 strong 1.000 37 54 1975 2017
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
disease 0.300 None 0 0
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
disease 0.100 None 0 1
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1866398
Disease: Proteus-Like Syndrome (disorder)
Proteus-Like Syndrome (disorder)
disease 0.100 None 0 1