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: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group 0.570 strong 1.000 1 0 2004 2020
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group 0.570 strong 1.000 1 0 2002 2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group 0.420 strong 1.000 1 0 2016 2018
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		matrin 3 0.631 0.538 1.00
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group 0.400 strong 1.000 0 0 2009 2018
Entrez Id: 10020
Gene Symbol: GNE
GNE 		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		group 0.370 strong 1.000 1 0 2002 2018