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: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.500 None 1.000 0 8 2002 2019
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
pyridine nucleotide-disulphide oxidoreductase domain 1 0.769 0.269 6.3E-09
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.410 strong 1.000 0 1 2016 2019
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.400 None 1.000 0 2 1998 1998
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 1 1 1999 2019
Entrez Id: 4620
Gene Symbol: MYH2
MYH2
myosin heavy chain 2 0.619 0.731 3.7E-23
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 1 2000 2018
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 3 2005 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 9 1991 2019
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 3 2012 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.542 0.769 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 1 2007 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 0.983 0 2 1988 2020
Entrez Id: 10020
Gene Symbol: GNE
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 2 2001 2019
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 1.000 0 2 2002 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.200 None 0.957 0 2 1993 2019
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.180 None 1.000 0 1 2000 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.160 None 1.000 0 3 2002 2018
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.150 None 1.000 0 1 2011 2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.150 None 0.800 0 1 1986 2004
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
calpain 3 0.564 0.615 3.6E-19
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.150 None 1.000 0 2 2008 2016
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
collagen type VI alpha 3 chain 0.563 0.769 1.8E-20
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.140 None 1.000 0 2 2011 2018
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.140 None 1.000 0 1 2013 2019
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.130 None 1.000 3 1 2016 2018
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.130 None 1.000 2 2 1999 2009
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.130 None 1.000 0 1 2008 2019
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
tripartite motif containing 32 0.587 0.769 1.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.130 None 1.000 0 1 2005 2019
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
titin-cap 0.682 0.538 0.19
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.120 None 1.000 0 1 2014 2017