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: 260431
Gene Symbol: COPD
COPD
Pulmonary disease, chronic obstructive, severe early-onset 349 0.456 0.885 0.010 None 1.000 1 0 2018 2018
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 124 0.544 0.731 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 234 0.534 0.731 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4569
Gene Symbol: TRNM
TRNM
tRNA 6 0.931 0.231 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6700
Gene Symbol: SPRR2A
SPRR2A
P35326 small proline rich protein 2A 67 0.612 0.731 0.010 None 1.000 1 0 2001 2001
Entrez Id: 690
Gene Symbol: BTF3P11
BTF3P11
basic transcription factor 3 pseudogene 11 154 0.519 0.731 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1769
Gene Symbol: DNAH8
DNAH8
Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.010 None 1.000 1 1 2018 2018
Entrez Id: 6476
Gene Symbol: SI
SI
P14410 sucrase-isomaltase Enzyme 117 0.569 0.692 3.9E-60 0.050 None 1.000 5 0 1995 2018
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 0 2010 2010
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 1 2017 2017
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
P13535 myosin heavy chain 8 39 0.682 0.385 2.0E-51 0.020 None 1.000 2 0 2007 2008
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 2014 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.020 None 1.000 2 0 2017 2018
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.070 None 1.000 7 0 2009 2018
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.050 None 1.000 5 0 1995 2018
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.040 None 1.000 4 1 2000 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 1.000 11 1 2001 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
P38398 BRCA1 DNA repair associated Enzyme 747 0.367 0.923 9.2E-29 0.010 None 1.000 1 0 2019 2019
Entrez Id: 178
Gene Symbol: AGL
AGL
P35573 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Enzyme 59 0.644 0.615 2.8E-27 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4620
Gene Symbol: MYH2
MYH2
Q9UKX2 myosin heavy chain 2 77 0.619 0.731 3.7E-23 0.030 None 1.000 3 1 2002 2014
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
Q75V66 anoctamin 5 110 0.619 0.538 2.9E-22 0.040 None 1.000 4 0 2014 2019
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
Q13061 triadin 49 0.691 0.462 8.4E-22 0.010 None 1.000 1 0 2017 2017
Entrez Id: 270
Gene Symbol: AMPD1
AMPD1
P23109 adenosine monophosphate deaminase 1 Enzyme 106 0.573 0.692 1.9E-21 0.010 None 1.000 1 0 2000 2000