Source: ALL
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 0.400 strong 0.953 43 5 1993 2019
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.390 strong 1.000 10 2 2007 2017
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.360 strong 1.000 7 0 2001 2019
Entrez Id: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.360 limited 1.000 7 0 2002 2016
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.360 strong 1.000 6 0 2013 2019
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.340 limited 1.000 5 0 1999 2014
Entrez Id: 9200
Gene Symbol: HACD1
HACD1 		B0YJ81 3-hydroxyacyl-CoA dehydratase 1 160 0.539 0.846 1.3E-09 0.320 moderate 1.000 2 0 2013 2017
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 0.320 strong 1.000 2 0 2017 2018
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.310 strong 1.000 1 0 2016 2016
Entrez Id: 4632
Gene Symbol: MYL1
MYL1 		P05976 myosin light chain 1 Calcium-binding protein 18 0.839 0.346 1.3E-04 0.310 strong 1.000 1 0 2018 2018
Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2 		P02585 troponin C2, fast skeletal type Calcium-binding protein 5 0.931 0.077 1.6E-02 0.300 None 1.000 1 0 2016 2016
Entrez Id: 339855
Gene Symbol: KY
KY 		Q8NBH2 kyphoscoliosis peptidase 39 0.736 0.231 1.5E-10 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		Q13683 integrin subunit alpha 7 111 0.588 0.654 4.3E-17 0.220 None 1.000 5 0 1997 2013
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: 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: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.200 None 1.000 1 0 2012 2012
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: 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: 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: 4625
Gene Symbol: MYH7
MYH7 		P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.110 None 1.000 2 1 2013 2016
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.100 None 1.000 12 0 1999 2019
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 1.000 12 0 1999 2016
Entrez Id: 1674
Gene Symbol: DES
DES 		P17661 desmin 330 0.460 0.846 8.8E-03 0.040 None 1.000 4 0 1995 2007