Source: CURATED

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: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease 1.000 None 0.992 17 125 2001 2019
Entrez Id: 25973
Gene Symbol: PARS2
PARS2 		prolyl-tRNA synthetase 2, mitochondrial 0.644 0.423 4.1E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease 0.320 strong 1.000 2 0 2017 2018