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: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
Q75V66 anoctamin 5 110 0.619 0.538 2.9E-22 0.100 None 0 0
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
P12111 collagen type VI alpha 3 chain Receptor 156 0.563 0.769 1.8E-20 0.100 None 0 0
Entrez Id: 844
Gene Symbol: CASQ1
CASQ1
P31415 calsequestrin 1 34 0.722 0.423 3.9E-18 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7
Q13683 integrin subunit alpha 7 111 0.588 0.654 4.3E-17 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.100 None 0 0
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
Q8N9N2 activating signal cointegrator 1 complex subunit 1 209 0.495 0.846 2.6E-14 0.100 None 0 0
Entrez Id: 10367
Gene Symbol: MICU1
MICU1
Q9BPX6 mitochondrial calcium uptake 1 Calcium-binding protein 76 0.638 0.654 1.9E-13 0.100 None 0 0
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.100 None 0 0
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13
C9JR72 kelch repeat and BTB domain containing 13 55 0.729 0.385 2.3E-10 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
Q9UBF9 myotilin 82 0.695 0.385 3.4E-08 0.100 None 0 0
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
P12110 collagen type VI alpha 2 chain Receptor 124 0.599 0.692 6.5E-08 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
Q0VAK6 leiomodin 3 Cellular structure 67 0.700 0.423 1.6E-07 0.100 None 0 0
Entrez Id: 9325
Gene Symbol: TRIP4
TRIP4
Q15650 thyroid hormone receptor interactor 4 Transcription factor 78 0.641 0.654 6.0E-07 0.100 None 0 0
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
Q16585 sarcoglycan beta 64 0.656 0.346 9.6E-07 0.100 None 0 0
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 0 0
Entrez Id: 84665
Gene Symbol: MYPN
MYPN
Q86TC9 myopalladin 114 0.612 0.615 2.6E-06 0.100 None 0 0