Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 1.000 None 1.000 119 106 1993 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.220 None 1.000 3 1 2012 2018
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
Q13683 integrin subunit alpha 7 111 0.588 0.654 4.3E-17 0.200 None 1.000 3 0 1997 2013
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.200 None 1.000 2 0 2010 2016
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.200 None 1.000 2 0 2013 2016
Entrez Id: 11041
Gene Symbol: B4GAT1
B4GAT1
O43505 beta-1,4-glucuronyltransferase 1 84 0.590 0.538 6.9E-03 0.200 None 1.000 1 0 2012 2012
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.200 None 1.000 1 0 2005 2005
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.200 None 1.000 1 0 2006 2006
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.200 None 1.000 1 0 2009 2009
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.200 None 0 0
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
P40879 solute carrier family 26 member 3 Transporter 128 0.554 0.692 1.4E-13 0.040 None 1.000 4 2 2017 2019
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
Q13950 RUNX family transcription factor 2 Transcription factor 405 0.437 0.846 0.95 0.040 None 1.000 4 1 1993 2014
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
Q92736 ryanodine receptor 2 Ion channel 160 0.539 0.615 1.00 0.040 None 1.000 4 0 2001 2017
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.030 None 1.000 3 0 2007 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.020 None 1.000 2 0 1993 2014
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
P29320 EPH receptor A3 Kinase 193 0.497 0.692 1.2E-05 0.020 None 1.000 2 0 1999 2005
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
Q13698 calcium voltage-gated channel subunit alpha1 S Ion channel 118 0.595 0.692 6.3E-12 0.020 None 1.000 2 0 2006 2011
Entrez Id: 2284
Gene Symbol: FKBP1AP3
FKBP1AP3
FKBP prolyl isomerase 1A pseudogene 3 26 0.700 0.538 0.010 None 1.000 1 0 2006 2006
Entrez Id: 5564
Gene Symbol: PRKAB1
PRKAB1
Q9Y478 protein kinase AMP-activated non-catalytic subunit beta 1 Kinase 296 0.460 0.846 5.3E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
P08246 elastase, neutrophil expressed Enzyme 346 0.447 0.846 1.2E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 216 0.513 0.654 0.91 0.010 None 1.000 1 0 2007 2007
Entrez Id: 6794
Gene Symbol: STK11
STK11
Q15831 serine/threonine kinase 11 Kinase 372 0.435 0.808 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
P05231 interleukin 6 2367 0.248 0.962 0.32 0.010 None 1.000 1 0 2011 2011
Entrez Id: 81857
Gene Symbol: MED25
MED25
Q71SY5 mediator complex subunit 25 Transcription factor 114 0.582 0.654 8.4E-07 0.010 None 1.000 1 0 2019 2019