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: 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: 6440
Gene Symbol: SFTPC
SFTPC 		surfactant protein C 0.556 0.692 7.5E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
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: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
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: 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: 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: 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: 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: 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: 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