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: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.400 strong 0.953 1 0 1993 2019
Entrez Id: 339855
Gene Symbol: KY
KY
kyphoscoliosis peptidase 0.736 0.231 1.5E-10
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
calcium voltage-gated channel subunit alpha1 S 0.595 0.692 6.3E-12
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 strong 1.000 1 0 2017 2018
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.360 strong 1.000 1 0 2013 2019
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.340 limited 1.000 1 0 1999 2014
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.390 strong 1.000 1 0 2007 2017
Entrez Id: 7125
Gene Symbol: TNNC2
TNNC2
troponin C2, fast skeletal type 0.931 0.077 1.6E-02
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.300 None 1.000 1 0 2016 2016
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2016 2016
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.360 strong 1.000 1 0 2001 2019
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.360 limited 1.000 1 0 2002 2016
Entrez Id: 4632
Gene Symbol: MYL1
MYL1
myosin light chain 1 0.839 0.346 1.3E-04
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.310 strong 1.000 1 0 2018 2018
Entrez Id: 9200
Gene Symbol: HACD1
HACD1
3-hydroxyacyl-CoA dehydratase 1 0.539 0.846 1.3E-09
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder)
group 0.320 moderate 1.000 1 0 2013 2017