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: 4703
Gene Symbol: NEB
NEB 		nebulin 0.608 0.692 4.6E-41
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.500 strong 1.000 2 0 1998 2019
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		troponin T1, slow skeletal type 0.633 0.577 7.0E-14
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.500 strong 1.000 2 0 2002 2019
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		tropomyosin 3 0.490 0.808 6.7E-03
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.500 None 0.947 2 0 1999 2013
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.400 strong 0.976 1 0 1999 2019
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.400 strong 0.941 1 0 2002 2018
Entrez Id: 26576
Gene Symbol: SRPK3
SRPK3 		SRSF protein kinase 3 1.000 0.077 0.29
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		neurofilament light 0.488 0.769
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 55958
Gene Symbol: KLHL9
KLHL9 		kelch like family member 9 0.839 0.154 0.82
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease 0.300 None 1.000 1 0 2010 2010