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: 127833
Gene Symbol: SYT2
SYT2 		synaptotagmin 2 0.647 0.538 0.98
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.510 None 1.000 1 0 2014 2014
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		agrin 0.626 0.538 5.5E-07
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 2 0 2009 2012
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 2 0 2014 2015
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		collagen type XIII alpha 1 chain 0.608 0.654 3.7E-14
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 1 0 2015 2015
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 1 0 2016 2016
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3 		solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.500 None 1.000 1 0 2016 2016
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A 		myosin IXA 0.647 0.500 0.49
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1 		vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease 0.300 None 0 0