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: 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: 54344
Gene Symbol: DPM3
DPM3 		dolichyl-phosphate mannosyltransferase subunit 3, regulatory 0.839 0.308 0.23
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 8
Entrez Id: 1211
Gene Symbol: CLTA
CLTA 		clathrin light chain A 0.628 0.654 0.96
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 2
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: 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: 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: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		interferon regulatory factor 2 binding protein like 0.631 0.462 0.84
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 4571
Gene Symbol: TRNP
TRNP 		tRNA 0.792 0.423
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ 		tRNA 0.590 0.731
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1
Entrez Id: 100128560
Gene Symbol: MYHAS
MYHAS 		myosin heavy chain gene cluster antisense RNA 0.890 0.269
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.100 None 0 1