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: 6261
Gene Symbol: RYR1
RYR1 		ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.200 None 0.960 14 3 2005 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.150 None 1.000 9 3 1996 2017
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.140 None 1.000 0 18 2003 2019
Entrez Id: 1674
Gene Symbol: DES
DES 		desmin 0.460 0.846 8.8E-03
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.130 None 1.000 9 4 1995 2013
Entrez Id: 2010
Gene Symbol: EMD
EMD 		emerin 0.542 0.731 0.93
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.120 None 1.000 10 3 1975 2007
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.120 None 1.000 1 1 2012 2017
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.110 None 1.000 6 1 2003 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.100 None 1.000 8 2 2003 2015
Entrez Id: 11155
Gene Symbol: LDB3
LDB3 		LIM domain binding 3 0.659 0.385 9.6E-06
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.100 None 1.000 8 1 2005 2017
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.100 None 1.000 1 1 2013 2013
Entrez Id: 6444
Gene Symbol: SGCD
SGCD 		sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.100 None 0 2