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: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 1.000 None 1.000 119 106 1993 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.220 None 1.000 3 1 2012 2018
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: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.200 None 1.000 2 0 2010 2016
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: 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: 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: 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
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: 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: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.040 None 1.000 4 1 1993 2014
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: 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: 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: 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: 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: 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: 5564
Gene Symbol: PRKAB1
PRKAB1 		protein kinase AMP-activated non-catalytic subunit beta 1 0.460 0.846 5.3E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1991
Gene Symbol: ELANE
ELANE 		elastase, neutrophil expressed 0.447 0.846 1.2E-03
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2018 2018
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: 6794
Gene Symbol: STK11
STK11 		serine/threonine kinase 11 0.435 0.808 0.99
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6 		interleukin 6 0.248 0.962 0.32
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease 0.010 None 1.000 1 0 2011 2011
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