Source: GENOMICS_ENGLAND

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: 3192
Gene Symbol: HNRNPU
HNRNPU 		heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C4479319
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 		disease 0.600 strong 1.000 2 0 2013 2016
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.440 strong 1.000 1 0 2012 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.400 None 1.000 2 0 2013 2017