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: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C1854990
Disease: Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum Cofactor Deficiency, Complementation Group C 		disease 0.700 strong 1.000 2 0 2001 2016
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		gephyrin 0.608 0.538 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.310 strong 1.000 1 0 2015 2016