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: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.100 None 0.986 70 0 1998 2019
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.100 None 0.976 41 0 1998 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 1.000 36 0 1989 2019
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.100 None 1.000 31 0 1998 2019
Entrez Id: 3925
Gene Symbol: STMN1
STMN1
P16949 stathmin 1 284 0.458 0.885 7.5E-02 0.100 None 1.000 31 0 1998 2019
Entrez Id: 8926
Gene Symbol: SNURF
SNURF
P63162 Q9Y675 SNRPN upstream reading frame 63 0.623 0.538 0.46 0.100 None 1.000 31 0 1998 2019
Entrez Id: 1760
Gene Symbol: DMPK
DMPK
Q09013 DM1 protein kinase Kinase 96 0.603 0.692 3.8E-02 0.100 None 1.000 19 0 1996 2019
Entrez Id: 367
Gene Symbol: AR
AR
P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.100 None 1.000 16 0 2000 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.070 None 1.000 7 0 2010 2019
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.050 None 1.000 5 0 1992 2019
Entrez Id: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.050 None 1.000 5 0 2002 2017
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.050 None 1.000 5 0 2008 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 0 2004 2014
Entrez Id: 10468
Gene Symbol: FST
FST
P19883 follistatin Enzyme modulator 182 0.513 0.731 0.98 0.040 None 1.000 4 0 2009 2019
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: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.030 None 1.000 3 0 2003 2012
Entrez Id: 2668
Gene Symbol: GDNF
GDNF
P39905 glial cell derived neurotrophic factor Signaling 409 0.434 0.885 0.20 0.030 None 1.000 3 0 1999 2018
Entrez Id: 2660
Gene Symbol: MSTN
MSTN
O14793 myostatin Signaling 159 0.528 0.731 0.51 0.030 None 1.000 3 0 2017 2018
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
Q14118 dystroglycan 1 Receptor 230 0.498 0.808 0.98 0.030 None 1.000 3 0 2003 2010
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.030 None 1.000 3 0 1988 2017
Entrez Id: 859
Gene Symbol: CAV3
CAV3
P56539 caveolin 3 Enzyme modulator 163 0.564 0.692 5.5E-03 0.030 None 0.667 3 0 2008 2015
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.030 None 1.000 3 0 2005 2018
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 112 0.623 0.462 5.4E-06 0.020 None 1.000 2 0 2016 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: 8557
Gene Symbol: TCAP
TCAP
O15273 titin-cap 49 0.682 0.538 0.19 0.020 None 1.000 2 0 2002 2016