Source: CLINVAR

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: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.500 definitive 1.000 11 2 1997 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.410 None 1.000 19 2 1997 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.200 None 1.000 23 3 1991 2019
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.170 None 1.000 22 2 1992 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.170 None 1.000 8 1 2004 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.160 None 1.000 27 3 1988 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.150 None 0.967 26 2 1995 2018
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.130 None 1.000 25 1 1983 2017
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.130 None 1.000 4 1 1995 2019
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
potassium channel tetramerization domain containing 7 0.650 0.423 6.3E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.120 None 1.000 10 2 2005 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 29 2 1980 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 27 6 1998 2016
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 21 3 1999 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 19 2 1993 2016
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 16 3 1989 2019
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
NK2 homeobox 1 0.457 0.808 0.36
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 12 2 1995 2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 11 1 2014 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 7 1 2004 2019
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
FLVCR heme transporter 1 0.529 0.885 1.3E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 6 2 1997 2016
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
ATPase phospholipid transporting 8A2 0.659 0.577 1.2E-12
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 5 1 2012 2018
Entrez Id: 7054
Gene Symbol: TH
TH
tyrosine hydroxylase 0.462 0.885 1.7E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 3 1 2000 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.593 0.654 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 3 2 2005 2013
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2
Rho related BTB domain containing 2 0.631 0.615 1.3E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 0 1 2018 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 0 1 2016 2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 46 1 1988 2017