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: 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: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2004 2004
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: 3605
Gene Symbol: IL17A
IL17A
interleukin 17A 0.324 0.923 4.3E-02
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 4772
Gene Symbol: NFATC1
NFATC1
nuclear factor of activated T cells 1 0.517 0.731 0.16
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2011 2011
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: 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: 9790
Gene Symbol: BMS1
BMS1
BMS1 ribosome biogenesis factor 0.499 0.846 1.8E-04
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 5563
Gene Symbol: PRKAA2
PRKAA2
protein kinase AMP-activated catalytic subunit alpha 2 0.456 0.846 3.5E-08
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2018 2018
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: 23411
Gene Symbol: SIRT1
SIRT1
sirtuin 1 0.378 0.885 8.7E-02
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2018 2018
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: 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: 11093
Gene Symbol: ADAMTS13
ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13 0.496 0.769 5.1E-15
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.542 0.769 1.00
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5562
Gene Symbol: PRKAA1
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1 0.453 0.846 0.14
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder)
disease 0.010 None 1.000 1 0 2018 2018
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: 217
Gene Symbol: ALDH2
ALDH2
aldehyde dehydrogenase 2 family member 0.457 0.885 3.4E-10
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: 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: 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