|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
ryanodine receptor 1
|
0.489 |
0.808 |
1.6E-29 |
Central Core Myopathy (disorder)
|
disease |
1.000 |
None
|
1.000 |
119 |
106 |
1993 |
2019 |
|
| Entrez Id: |
1811 |
| Gene Symbol: |
SLC26A3 |
SLC26A3
|
solute carrier family 26 member 3
|
0.554 |
0.692 |
1.4E-13 |
Central Core Myopathy (disorder)
|
disease |
0.040 |
None
|
1.000 |
4 |
2 |
2017 |
2019 |
|
| Entrez Id: |
6262 |
| Gene Symbol: |
RYR2 |
RYR2
|
ryanodine receptor 2
|
0.539 |
0.615 |
1.00 |
Central Core Myopathy (disorder)
|
disease |
0.040 |
None
|
1.000 |
4 |
0 |
2001 |
2017 |
|
| Entrez Id: |
860 |
| Gene Symbol: |
RUNX2 |
RUNX2
|
RUNX family transcription factor 2
|
0.437 |
0.846 |
0.95 |
Central Core Myopathy (disorder)
|
disease |
0.040 |
None
|
1.000 |
4 |
1 |
1993 |
2014 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
selenoprotein N
|
0.575 |
0.692 |
9.8E-10 |
Central Core Myopathy (disorder)
|
disease |
0.030 |
None
|
1.000 |
3 |
0 |
2007 |
2012 |
|
| Entrez Id: |
3679 |
| Gene Symbol: |
ITGA7 |
ITGA7
|
integrin subunit alpha 7
|
0.588 |
0.654 |
4.3E-17 |
Central Core Myopathy (disorder)
|
disease |
0.200 |
None
|
1.000 |
3 |
0 |
1997 |
2013 |
|
| Entrez Id: |
4000 |
| Gene Symbol: |
LMNA |
LMNA
|
lamin A/C
|
0.384 |
0.885 |
1.00 |
Central Core Myopathy (disorder)
|
disease |
0.220 |
None
|
1.000 |
3 |
1 |
2012 |
2018 |
|
| Entrez Id: |
4625 |
| Gene Symbol: |
MYH7 |
MYH7
|
myosin heavy chain 7
|
0.516 |
0.692 |
4.2E-16 |
Central Core Myopathy (disorder)
|
disease |
0.020 |
None
|
1.000 |
2 |
0 |
1993 |
2014 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
0.537 |
0.538 |
1.9E-20 |
Central Core Myopathy (disorder)
|
disease |
0.200 |
None
|
1.000 |
2 |
0 |
2013 |
2016 |
|
| Entrez Id: |
779 |
| Gene Symbol: |
CACNA1S |
CACNA1S
|
calcium voltage-gated channel subunit alpha1 S
|
0.595 |
0.692 |
6.3E-12 |
Central Core Myopathy (disorder)
|
disease |
0.020 |
None
|
1.000 |
2 |
0 |
2006 |
2011 |
|
| Entrez Id: |
2042 |
| Gene Symbol: |
EPHA3 |
EPHA3
|
EPH receptor A3
|
0.497 |
0.692 |
1.2E-05 |
Central Core Myopathy (disorder)
|
disease |
0.020 |
None
|
1.000 |
2 |
0 |
1999 |
2005 |
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
fukutin related protein
|
0.513 |
0.731 |
9.8E-06 |
Central Core Myopathy (disorder)
|
disease |
0.200 |
None
|
1.000 |
2 |
0 |
2010 |
2016 |
|
| Entrez Id: |
5562 |
| Gene Symbol: |
PRKAA1 |
PRKAA1
|
protein kinase AMP-activated catalytic subunit alpha 1
|
0.453 |
0.846 |
0.14 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2018 |
2018 |
|
| Entrez Id: |
51086 |
| Gene Symbol: |
TNNI3K |
TNNI3K
|
TNNI3 interacting kinase
|
0.691 |
0.346 |
3.1E-48 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2018 |
2018 |
|
| Entrez Id: |
5563 |
| Gene Symbol: |
PRKAA2 |
PRKAA2
|
protein kinase AMP-activated catalytic subunit alpha 2
|
0.456 |
0.846 |
3.5E-08 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2018 |
2018 |
|
| Entrez Id: |
9215 |
| Gene Symbol: |
LARGE1 |
LARGE1
|
LARGE xylosyl- and glucuronyltransferase 1
|
0.526 |
0.654 |
0.99 |
Central Core Myopathy (disorder)
|
disease |
0.200 |
None
|
1.000 |
1 |
0 |
2005 |
2005 |
|
| Entrez Id: |
5564 |
| Gene Symbol: |
PRKAB1 |
PRKAB1
|
protein kinase AMP-activated non-catalytic subunit beta 1
|
0.460 |
0.846 |
5.3E-03 |
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 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2007 |
2007 |
|
| Entrez Id: |
9790 |
| Gene Symbol: |
BMS1 |
BMS1
|
BMS1 ribosome biogenesis factor
|
0.499 |
0.846 |
1.8E-04 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2004 |
2004 |
|
| Entrez Id: |
9499 |
| Gene Symbol: |
MYOT |
MYOT
|
myotilin
|
0.695 |
0.385 |
3.4E-08 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2003 |
2003 |
|
| Entrez Id: |
6331 |
| Gene Symbol: |
SCN5A |
SCN5A
|
sodium voltage-gated channel alpha subunit 5
|
0.513 |
0.654 |
0.91 |
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 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2018 |
2018 |
|
| Entrez Id: |
2280 |
| Gene Symbol: |
FKBP1A |
FKBP1A
|
FKBP prolyl isomerase 1A
|
0.641 |
0.654 |
0.81 |
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 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
2019 |
2019 |
|
| Entrez Id: |
487 |
| Gene Symbol: |
ATP2A1 |
ATP2A1
|
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
|
0.682 |
0.423 |
1.5E-14 |
Central Core Myopathy (disorder)
|
disease |
0.010 |
None
|
1.000 |
1 |
0 |
1999 |
1999 |