Source: CLINVAR

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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