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: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C3550904
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 		disease 0.700 None 1.000 2 0 2012 2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.320 moderate 1.000 2 0 2012 2017
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.310 moderate 1.000 1 0 2014 2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		disease 0.300 None 1.000 1 0 2013 2013