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: 100288687
Gene Symbol: DUX4
DUX4 		Q9UBX2 double homeobox 4 79 0.604 0.500 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 112 0.599 0.577 0.100 None 1.000 1 1 2013 2013
Entrez Id: 17
Gene Symbol: AAVS1
AAVS1 		adeno-associated virus integration site 1 78 0.595 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 260431
Gene Symbol: COPD
COPD 		Pulmonary disease, chronic obstructive, severe early-onset 349 0.456 0.885 0.010 None 1.000 1 0 2019 2019
Entrez Id: 261
Gene Symbol: AMCN
AMCN 		arthrogryposis multiplex congenita, neurogenic 42 0.682 0.615 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2011 2011
Entrez Id: 406989
Gene Symbol: MIR206
MIR206 		microRNA 206 226 0.477 0.846 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4514
Gene Symbol: COX3
COX3 		P00414 cytochrome c oxidase III Enzyme 195 0.546 0.808 0.010 None 1.000 1 0 2011 2011
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		P00156 cytochrome b 166 0.529 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.120 None 1.000 3 1 2012 2017
Entrez Id: 6476
Gene Symbol: SI
SI 		P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.020 None 1.000 2 0 1999 2005
Entrez Id: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.020 None 1.000 2 0 2012 2013
Entrez Id: 1636
Gene Symbol: ACE
ACE 		P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.020 None 1.000 2 0 2018 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM 		O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.040 None 1.000 4 0 2004 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.200 None 0.960 25 3 2005 2019
Entrez Id: 4620
Gene Symbol: MYH2
MYH2 		Q9UKX2 myosin heavy chain 2 77 0.619 0.731 3.7E-23 0.010 None 1.000 1 0 2013 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		Q75V66 anoctamin 5 110 0.619 0.538 2.9E-22 0.020 None 0.500 2 0 2012 2014
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.040 None 1.000 4 0 2012 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.020 None 1.000 2 0 2012 2016
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		P14780 matrix metallopeptidase 9 Enzyme 1337 0.305 0.923 1.9E-17 0.010 None 1.000 1 0 2006 2006
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.020 None 1.000 2 0 2010 2020