Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1520
Gene Symbol: CTSS
CTSS
cathepsin S 0.539 0.731 0.34
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.200 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.010 None < 0.001 1 0 2007 2007
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
monoamine oxidase A 0.465 0.769 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 1838
Gene Symbol: DTNB
DTNB
dystrobrevin beta 0.805 0.308 2.8E-10
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.010 None < 0.001 1 0 1998 1998
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.020 None 0.500 2 0 1992 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.020 None 0.500 2 0 1999 2005
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.030 None 0.667 3 0 1987 1988
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.030 None 0.667 3 0 1992 2018
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.090 None 0.778 9 0 2006 2019
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.070 None 0.857 7 0 2009 2020
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.400 None 0.917 12 0 1995 2019
Entrez Id: 7402
Gene Symbol: UTRN
UTRN
utrophin 0.525 0.692 1.0E-19
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.100 None 0.971 70 0 1991 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 1125 152 1981 2020
Entrez Id: 2660
Gene Symbol: MSTN
MSTN
myostatin 0.528 0.731 0.51
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.100 None 1.000 20 0 2003 2020
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.100 None 1.000 15 1 2009 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.100 None 1.000 10 0 1984 1993
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
dystroglycan 1 0.498 0.808 0.98
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.100 None 1.000 10 0 1995 2018
Entrez Id: 8425
Gene Symbol: LTBP4
LTBP4
latent transforming growth factor beta binding protein 4 0.604 0.654 0.50
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.400 None 1.000 10 1 2013 2018
Entrez Id: 2710
Gene Symbol: GK
GK
glycerol kinase 0.656 0.577 0.99
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.090 None 1.000 9 0 1988 2019
Entrez Id: 4151
Gene Symbol: MB
MB
myoglobin 0.556 0.731 3.1E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.080 None 1.000 8 0 1980 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.080 None 1.000 8 0 1987 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.070 None 1.000 7 0 1987 2019
Entrez Id: 8082
Gene Symbol: SSPN
SSPN
sarcospan 0.716 0.462 4.0E-02
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.060 None 1.000 6 0 2008 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.060 None 1.000 6 0 2005 2020
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
cellular communication network factor 2 0.399 0.846 5.0E-04
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 0.060 None 1.000 6 0 2008 2019