Source: ALL
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: 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: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 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: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.100 None 0 2
Entrez Id: 4485
Gene Symbol: MST1
MST1 		P26927 macrophage stimulating 1 Enzyme 281 0.465 0.885 4.8E-19 0.100 None 0 0
Entrez Id: 1763
Gene Symbol: DNA2
DNA2 		P51530 DNA replication helicase/nuclease 2 71 0.626 0.731 1.3E-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: 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: 55131
Gene Symbol: RBM28
RBM28 		Q9NW13 RNA binding motif protein 28 44 0.682 0.423 6.2E-12 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		P17050 alpha-N-acetylgalactosaminidase 86 0.647 0.538 1.8E-11 0.100 None 0 0
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB 		P45954 acyl-CoA dehydrogenase short/branched chain 32 0.691 0.500 2.7E-11 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: 10558
Gene Symbol: SPTLC1
SPTLC1 		O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 63 0.650 0.538 4.2E-11 0.010 None 1.000 1 1 2013 2013
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: 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: 79912
Gene Symbol: PYROXD1
PYROXD1 		Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 42 0.769 0.269 6.3E-09 0.100 None 0 1
Entrez Id: 4927
Gene Symbol: NUP88
NUP88 		Q99567 nucleoporin 88 Transporter 58 0.659 0.577 2.0E-08 0.100 None 0 0
Entrez Id: 80055
Gene Symbol: PGAP1
PGAP1 		Q75T13 post-GPI attachment to proteins inositol deacylase 1 Transporter 75 0.650 0.423 3.2E-08 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: 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: 7084
Gene Symbol: TK2
TK2 		O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-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: 203228
Gene Symbol: C9orf72
C9orf72 		Q96LT7 C9orf72-SMCR8 complex subunit 258 0.496 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