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: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.100 None 1.000 1 2 2011 2011
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 1.000 1 2 2011 2011
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
Q9UBF9 myotilin 82 0.695 0.385 3.4E-08 0.010 None 1.000 1 0 2002 2002
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
P12883 myosin heavy chain 7 257 0.516 0.692 4.2E-16 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.010 None 1.000 1 0 2001 2001
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.010 None 1.000 1 0 1991 1991
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.010 None 1.000 1 0 2017 2017