Source: GENOMICS_ENGLAND

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: 58
Gene Symbol: ACTA1
ACTA1
actin, alpha 1, skeletal muscle 0.590 0.586 9.5E-07
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.500 strong 0.917 2 0 1999 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.500 strong 1 0 2012 2014
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.545 0.621 2.3E-28
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.400 strong 0.941 1 0 2000 2018
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.580 0.517 2.4E-04
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.400 strong 1.000 0 0 2007 2017
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.720 0.448 1.2E-35
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.350 strong 1.000 1 0 2002 2016
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.636 0.379
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.340 strong 1.000 2 0 2005 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.551 0.655 7.6E-03
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.340 strong 1.000 1 0 2010 2015
Entrez Id: 1674
Gene Symbol: DES
DES
desmin 0.503 0.759 7.7E-03
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.330 limited 1.000 0 0 1995 2007
Entrez Id: 1073
Gene Symbol: CFL2
CFL2
cofilin 2 0.735 0.310 3.1E-04
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 3 0 2007 2014
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.534 0.655 6.4E-84
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 3 0 2007 2018
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
leiomodin 3 0.799 0.172 2.1E-07
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 1 0 2015 2018
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.621 0.517 1.00
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 1 0 1996 2012
Entrez Id: 4620
Gene Symbol: MYH2
MYH2
myosin heavy chain 2 0.639 0.586 6.6E-23
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 0 0 2013 2018
Entrez Id: 124093
Gene Symbol: CCDC78
CCDC78
coiled-coil domain containing 78 0.743 0.138 5.5E-31
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 moderate 1.000 1 0 2012 2012
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
myosin heavy chain 7 0.564 0.483 3.7E-16
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2004 2013
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.540 0.655 1.00
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2011 2012
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.577 0.483
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 moderate 1.000 1 0 2015 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.580 0.483 0.55
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2016 2016
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
calcium voltage-gated channel subunit alpha1 S 0.685 0.517 3.1E-12
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2017 2017
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10
multiple EGF like domains 10 0.696 0.414 0.64
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2012 2012
Entrez Id: 1272
Gene Symbol: CNTN1
CNTN1
contactin 1 0.667 0.310 0.55
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 moderate 1.000 1 0 2009 2009
Entrez Id: 9200
Gene Symbol: HACD1
HACD1
3-hydroxyacyl-CoA dehydratase 1 0.648 0.655
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 moderate 1.000 1 0 2014 2014
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4
spectrin beta, non-erythrocytic 4 0.752 0.276 1.00
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 limited 1.000 1 0 2017 2017
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
dysferlin 0.611 0.483 3.8E-33
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 limited 1.000 0 0 2007 2007
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.592 0.414 5.9E-03
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 limited 1.000 0 0 2007 2007