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: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 limited 0.985 2 0 2009 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 strong 0.985 2 0 1993 2020
Entrez Id: 29110
Gene Symbol: TBK1
TBK1 		TANK binding kinase 1 0.513 0.846 7.5E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.700 strong 1.000 2 0 2015 2019
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		matrin 3 0.631 0.538 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.700 limited 1.000 1 0 2009 2019
Entrez Id: 8148
Gene Symbol: TAF15
TAF15 		TATA-box binding protein associated factor 15 0.626 0.500 0.17
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.700 limited 0.929 1 0 2011 2019
Entrez Id: 1610
Gene Symbol: DAO
DAO 		D-amino acid oxidase 0.636 0.615 6.2E-22
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.670 moderate 1.000 1 0 2010 2018
Entrez Id: 23064
Gene Symbol: SETX
SETX 		senataxin 0.570 0.731 0.95
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.500 moderate 0.952 0 0 1998 2018
Entrez Id: 3181
Gene Symbol: HNRNPA2B1
HNRNPA2B1 		heterogeneous nuclear ribonucleoprotein A2/B1 0.566 0.808 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.490 moderate 1.000 1 0 2014 2018
Entrez Id: 2130
Gene Symbol: EWSR1
EWSR1 		EWS RNA binding protein 1 0.474 0.692 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.400 moderate 0.909 1 0 2011 2019
Entrez Id: 64283
Gene Symbol: ARHGEF28
ARHGEF28 		Rho guanine nucleotide exchange factor 28 0.615 0.423 8.1E-21
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.370 moderate 1.000 1 0 2013 2020