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: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.120 None 1.000 2 0 2013 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.110 None 1.000 1 0 2007 2007
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.110 None 1.000 1 1 2011 2011
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.110 None 1.000 1 1 2011 2011
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.110 None 1.000 1 0 2010 2010
Entrez Id: 595
Gene Symbol: CCND1
CCND1
P24385 cyclin D1 Enzyme modulator 859 0.344 0.923 0.89 0.100 None 0 0
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 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: 57505
Gene Symbol: AARS2
AARS2
Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1
Q68CQ7 glycosyltransferase 8 domain containing 1 38 0.711 0.462 1.1E-08 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 316 0.474 0.846 2.4E-04 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 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: 5630
Gene Symbol: PRPH
PRPH
P41219 peripherin 73 0.623 0.462 4.8E-14 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
Q96PY6 NIMA related kinase 1 Kinase 131 0.575 0.769 1.9E-25 0.100 None 0 0
Entrez Id: 486
Gene Symbol: FXYD2
FXYD2
P54710 FXYD domain containing ion transport regulator 2 Transporter 20 0.780 0.346 0.11 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20
Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 133 0.564 0.769 8.4E-09 0.100 None 0 0
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
P07737 profilin 1 119 0.565 0.769 0.73 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Q9NZC2 triggering receptor expressed on myeloid cells 2 239 0.519 0.769 3.3E-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