Source: CLINVAR

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: 8120
Gene Symbol: AP3B2
AP3B2 		adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		disease 0.600 strong 1.000 0 5 2016 2016
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.110 None 1.000 0 2 2016 2016