Source: ORPHANET

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: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease 0.500 None 1.000 2 0 2009 2012
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease 0.500 None 1.000 1 0 2015 2015
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease 0.500 None 1.000 1 0 2014 2014
Entrez Id: 221264
Gene Symbol: AK9
AK9 		adenylate kinase 9 0.751 0.346 3.7E-26
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease 0.300 None 1.000 1 0 2017 2017