Source: HPO

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: 4649
Gene Symbol: MYO9A
MYO9A
myosin IXA 0.647 0.500 0.49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.600 limited 1.000 0 0 1998 2016
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 0 0 2004 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 0 0 2005 2017
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 0 0 2012 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 0 0 2016 2018
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
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 0 0 2005 2013
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 0 0 2006 2020
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
cholinergic receptor nicotinic gamma subunit 0.573 0.692 3.3E-19
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.420 None 1.000 0 0 2006 2016
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 0 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 0 0 2018 2018
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.400 None 1.000 0 0 2008 2008
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.140 None 1.000 0 0 2014 2018
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.140 None 1.000 0 0 2014 2018
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.140 None 1.000 0 0 2013 2019
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.130 None 1.000 0 0 2017 2020
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
myosin binding protein C1 0.666 0.462 4.8E-05
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.130 None 1.000 0 0 2015 2019
Entrez Id: 2733
Gene Symbol: GLE1
GLE1
GLE1 RNA export mediator 0.628 0.577 2.1E-10
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.120 None 1.000 0 0 2017 2018
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.120 None 1.000 0 0 2009 2016
Entrez Id: 23443
Gene Symbol: SLC35A3
SLC35A3
solute carrier family 35 member A3 0.716 0.308 2.6E-03
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.120 None 1.000 0 0 2013 2017
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
myosin heavy chain 8 0.682 0.385 2.0E-51
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 4703
Gene Symbol: NEB
NEB
nebulin 0.608 0.692 4.6E-41
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
endoplasmic reticulum-golgi intermediate compartment 1 0.700 0.423 0.65
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2018 2018