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: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.310 None 1.000 1 0 2011 2017
Entrez Id: 10846
Gene Symbol: PDE10A
PDE10A
phosphodiesterase 10A 0.619 0.615 1.00
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.120 None 1.000 2 2 2016 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.110 None 1.000 1 0 2014 2014
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.110 None 1.000 1 0 2017 2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.110 None 1.000 1 0 2018 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.110 None 1.000 1 0 2018 2018
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.110 None 1.000 1 0 2013 2013
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.050 None 1.000 5 0 2015 2019
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
torsin family 1 member A 0.566 0.731 5.1E-04
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.040 None 1.000 4 0 1998 2010
Entrez Id: 5552
Gene Symbol: SRGN
SRGN
serglycin 0.588 0.731 0.70
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2011 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
solute carrier family 18 member A2 0.554 0.769 7.6E-02
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8870
Gene Symbol: IER3
IER3
immediate early response 3 0.593 0.769 0.63
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
ATPase phospholipid transporting 8A2 0.659 0.577 1.2E-12
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 140679
Gene Symbol: SLC32A1
SLC32A1
solute carrier family 32 member 1 0.743 0.577 0.97
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22949
Gene Symbol: PTGR1
PTGR1
prostaglandin reductase 1 0.729 0.231 3.5E-08
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23574
Gene Symbol: PRG1
PRG1
p53-responsive gene 1 0.839 0.231
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.510 0.654 0.34
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 0 2011 2011
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240
transmembrane protein 240 0.760 0.231 0.23
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia
phenotype 0.010 None 1.000 1 1 2019 2019