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: 2673
Gene Symbol: GFPT1
GFPT1 		glutamine--fructose-6-phosphate transaminase 1 0.612 0.654 0.90
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.700 limited 1.000 1 0 2011 2019
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.650 strong 1.000 1 0 2009 2020
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.640 None 1.000 0 0 2003 2016
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3 		solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.550 strong 1.000 1 0 2016 2019
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.530 strong 1.000 1 0 2016 2019
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		cholinergic receptor nicotinic delta subunit 0.641 0.462 5.4E-09
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.520 limited 1.000 1 0 2002 2017
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.520 strong 1.000 1 0 2013 2019
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.520 strong 1.000 1 0 2014 2015
Entrez Id: 199857
Gene Symbol: ALG14
ALG14 		ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.510 strong 1.000 1 0 2013 2013
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.500 None 1.000 2 0 2003 2020
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		docking protein 7 0.615 0.615 1.0E-04
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.500 strong 1.000 1 0 2006 2020
Entrez Id: 8292
Gene Symbol: COLQ
COLQ 		collagen like tail subunit of asymmetric acetylcholinesterase 0.628 0.654 7.9E-14
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.500 limited 1.000 1 0 1998 2020
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.480 strong 1.000 1 0 2015 2019
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1 		vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.420 strong 1.000 1 0 2017 2017
Entrez Id: 4593
Gene Symbol: MUSK
MUSK 		muscle associated receptor tyrosine kinase 0.570 0.769 4.2E-08
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.370 strong 1.000 1 0 2008 2019
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.330 strong 1.000 1 0 2011 2019
Entrez Id: 3913
Gene Symbol: LAMB2
LAMB2 		laminin subunit beta 2 0.601 0.654 2.5E-19
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease 0.320 None 1.000 1 0 2009 2016