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: 122622
Gene Symbol: ADSS1
ADSS1
Q8N142 adenylosuccinate synthase 1 Enzyme 49 0.722 0.385 2.8E-07 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: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 7072
Gene Symbol: TIA1
TIA1
P31483 TIA1 cytotoxic granule associated RNA binding protein 96 0.595 0.577 0.27 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: 4358
Gene Symbol: MPV17
MPV17
P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.100 None 0 2
Entrez Id: 4311
Gene Symbol: MME
MME
P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 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: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
Q14315 filamin C 132 0.568 0.615 1.00 0.100 None 0 0
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
Q12988 heat shock protein family B (small) member 3 327 0.448 0.769 6.1E-05 0.100 None 0 0