Source: ALL

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: 6572
Gene Symbol: SLC18A3
SLC18A3 		solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		disease 0.600 None 1.000 2 2 2016 2019
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C4310654
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 		disease 0.100 None 0 2