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: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 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: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 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: 6444
Gene Symbol: SGCD
SGCD
Q92629 sarcoglycan delta Cellular structure 68 0.641 0.615 2.1E-03 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.100 None 0 0
Entrez Id: 80324
Gene Symbol: PUS1
PUS1
Q9Y606 pseudouridine synthase 1 Enzyme 43 0.695 0.462 1.7E-03 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
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.100 None 0 1
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41
O60662 kelch like family member 41 94 0.682 0.538 1.1E-04 0.100 None 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.100 None 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
Q9Y2U8 LEM domain containing 3 112 0.582 0.731 1.00 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 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: 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: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0
Entrez Id: 51067
Gene Symbol: YARS2
YARS2
Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 55 0.663 0.462 3.0E-11 0.100 None 0 0
Entrez Id: 100288687
Gene Symbol: DUX4
DUX4
Q9UBX2 double homeobox 4 79 0.604 0.500 0.010 None 1.000 1 0 2019 2019