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: 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: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 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: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
Q8WTS1 abhydrolase domain containing 5 76 0.641 0.538 6.4E-07 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: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
Q96AD5 patatin like phospholipase domain containing 2 Enzyme 199 0.511 0.846 4.1E-03 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
Q13702 receptor associated protein of the synapse 121 0.593 0.731 1.5E-03 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: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 2
Entrez Id: 7415
Gene Symbol: VCP
VCP
P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 1
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: 9499
Gene Symbol: MYOT
MYOT
Q9UBF9 myotilin 82 0.695 0.385 3.4E-08 0.100 None 0 0
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
P43243 matrin 3 92 0.631 0.538 1.00 0.100 None 0 0
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 83 0.647 0.692 0.100 None 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
O75096 LDL receptor related protein 4 151 0.568 0.692 1.4E-06 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 10049
Gene Symbol: DNAJB6
DNAJB6
O75190 DnaJ heat shock protein family (Hsp40) member B6 65 0.659 0.462 0.85 0.100 None 0 0
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 112 0.599 0.577 0.100 None 0 2
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 158 0.558 0.769 1.5E-10 0.100 None 0 0
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 109 0.615 0.577 2.1E-08 0.100 None 0 0