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: 163175
Gene Symbol: LGI4
LGI4
leucine rich repeat LGI family member 4 0.678 0.308 7.2E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 None 1.000 2 0 2006 2020
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
troponin T3, fast skeletal type 0.653 0.308 2.1E-07
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.310 None 1.000 2 0 2003 2009
Entrez Id: 63894
Gene Symbol: VIPAS39
VIPAS39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 0.705 0.500 7.3E-10
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.430 strong 1.000 2 0 2012 2016
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
MAGE family member L2 0.560 0.654 0.98
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.350 strong 1.000 2 0 2013 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.320 strong 1.000 1 0 2017 2019
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
tropomyosin 2 0.530 0.654 2.4E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.440 strong 1.000 1 0 2005 2017
Entrez Id: 7136
Gene Symbol: TNNI2
TNNI2
troponin I2, fast skeletal type 0.631 0.423 0.14
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 strong 1.000 1 0 2005 2013
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.340 strong 1.000 1 0 1996 1998
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 moderate 1.000 1 0 2017 2019
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
activating signal cointegrator 1 complex subunit 1 0.495 0.846 2.6E-14
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 strong 1.000 1 0 2018 2018
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 None 1.000 1 0 2020 2020
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.647 0.500 0.49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.600 limited 1.000 1 0 1998 2016
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
L1 cell adhesion molecule 0.475 0.769 1.00
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.310 limited 1.000 1 0 2019 2019
Entrez Id: 26276
Gene Symbol: VPS33B
VPS33B
VPS33B late endosome and lysosome associated 0.644 0.654 2.4E-16
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.460 strong 1.000 1 0 2004 2019
Entrez Id: 23355
Gene Symbol: VPS8
VPS8
VPS8 subunit of CORVET complex 1.000 0.077 5.1E-08
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.500 limited 1.000 1 0 1996 2016
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.615 0.731 0.98
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.430 strong 1.000 1 0 2016 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.320 strong 1.000 1 0 2015 2017
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.310 limited 1.000 1 0 2015 2015
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.430 strong 1.000 0 0 2006 2015