Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 26 0.588 0.577 0.98 0.100 None 0 1