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: 424
Gene Symbol: ARVD3
ARVD3 		arrhythmogenic right ventricular dysplasia 3 0.792 0.192
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 4634
Gene Symbol: MYL3
MYL3 		myosin light chain 3 0.695 0.308 8.8E-02
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 51086
Gene Symbol: TNNI3K
TNNI3K 		TNNI3 interacting kinase 0.691 0.346 3.1E-48
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9499
Gene Symbol: MYOT
MYOT 		myotilin 0.695 0.385 3.4E-08
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1120
Gene Symbol: CHKB
CHKB 		choline kinase beta 0.663 0.423 3.8E-07
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 487
Gene Symbol: ATP2A1
ATP2A1 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 0.682 0.423 1.5E-14
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 2 0 2013 2016
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1 		beta-1,4-glucuronyltransferase 1 0.590 0.538 6.9E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 2282
Gene Symbol: FKBP1AP1
FKBP1AP1 		FKBP prolyl isomerase 1A pseudogene 1 0.700 0.538
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2283
Gene Symbol: FKBP1AP2
FKBP1AP2 		FKBP prolyl isomerase 1A pseudogene 2 0.700 0.538
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2284
Gene Symbol: FKBP1AP3
FKBP1AP3 		FKBP prolyl isomerase 1A pseudogene 3 0.700 0.538
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2285
Gene Symbol: FKBP1AP4
FKBP1AP4 		FKBP prolyl isomerase 1A pseudogene 4 0.700 0.538
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		ryanodine receptor 2 0.539 0.615 1.00
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.040 None 1.000 4 0 2001 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		protein O-mannosyltransferase 1 0.525 0.615 4.2E-17
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 0 0
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		integrin subunit alpha 7 0.588 0.654 4.3E-17
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 3 0 1997 2013
Entrez Id: 2280
Gene Symbol: FKBP1A
FKBP1A 		FKBP prolyl isomerase 1A 0.641 0.654 0.81
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 81857
Gene Symbol: MED25
MED25 		mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		LARGE xylosyl- and glucuronyltransferase 1 0.526 0.654 0.99
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 1 0 2005 2005
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3 		solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.040 None 1.000 4 2 2017 2019
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		selenoprotein N 0.575 0.692 9.8E-10
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.030 None 1.000 3 0 2007 2012
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3 		EPH receptor A3 0.497 0.692 1.2E-05
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.020 None 1.000 2 0 1999 2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.020 None 1.000 2 0 1993 2014
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.020 None 1.000 2 0 2006 2011
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		fukutin 0.511 0.692 8.7E-07
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 1 0 2009 2009