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: 1146
Gene Symbol: CHRNG
CHRNG
cholinergic receptor nicotinic gamma subunit 0.609 0.552 1.1E-19
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.620 strong 1.000 1 0 2006 2016
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.690 8.1E-22
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.600 strong 0 0 2008 2008
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.857 0.103 0.91
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.500 limited 4 0 1998 2016
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
VPS8, CORVET complex subunit 1.000 0.069 4.3E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.500 limited 3 0 1996 2016
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.580 0.517 2.4E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.440 strong 1.000 4 0 2005 2017
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
VPS33B, late endosome and lysosome associated 0.681 0.517 9.5E-17
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.440 strong 1.000 2 0 2004 2016
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.630 0.448 2.9E-20
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.430 strong 1.000 0 0 2006 2015
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.707 0.172 0.13
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 strong 1.000 3 0 2005 2013
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.627 0.448 1.9E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 strong 1.000 2 0 2013 2017
Entrez Id: 63894
Gene Symbol: VIPAS39
VIPAS39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 0.696 0.414 9.8E-10
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 strong 1.000 1 0 2010 2016
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.762 0.241 2.3E-13
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 strong 1.000 0 0 2015 2016
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.707 0.207 1.5E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 1.000 6 0 1999 2014
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
myosin binding protein C, slow type 0.752 0.172 5.3E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 5 0 2010 2016
Entrez Id: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.720 0.276 7.4E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 3 0 2005 2017
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
GLE1, RNA export mediator 0.681 0.448 1.4E-10
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 2 0 2008 2017
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
erb-b2 receptor tyrosine kinase 3 0.473 0.690 6.7E-15
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 2 0 2003 2007
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
myosin heavy chain 8 0.735 0.276 1.4E-50
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 2 0 1996 2008
Entrez Id: 60681
Gene Symbol: FKBP10
FKBP10
FK506 binding protein 10 0.639 0.414 2.1E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong 1.000 1 0 2010 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.521 0.724 5.6E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 strong < 0.001 1 0 2000 2000
Entrez Id: 112
Gene Symbol: ADCY6
ADCY6
adenylate cyclase 6 0.743 0.379 3.7E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 limited 1.000 1 0 2014 2014
Entrez Id: 5297
Gene Symbol: PI4KA
PI4KA
phosphatidylinositol 4-kinase alpha 0.707 0.379 2.0E-11
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 limited 1.000 1 0 2016 2016
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3
solute carrier family 35 member A3 0.743 0.241 9.0E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 limited 1.000 1 0 2014 2014
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.720 0.414 0.98
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.410 limited 1.000 0 0 2015 2017
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
muscle associated receptor tyrosine kinase 0.609 0.621 1.2E-07
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 strong 5 0 2005 2016
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.614 0.586 1.6E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 strong 2 0 1993 2009