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: 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: 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: 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: 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: 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: 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: 23245
Gene Symbol: ASTN2
ASTN2 		astrotactin 2 0.666 0.462 1.00
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
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: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.110 None 1.000 0 2 2014 2014
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