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: 2521
Gene Symbol: FUS
FUS
FUS RNA binding protein 0.470 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 1 2009 2015
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: 894
Gene Symbol: CCND2
CCND2
cyclin D2 0.477 0.808 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 1 2004 2018
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 5 1 2007 2016
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: 79581
Gene Symbol: SLC52A2
SLC52A2
solute carrier family 52 member 2 0.483 0.808 2.5E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 2 2012 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 18 3 1984 2015
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
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 1 1973 2013
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 16 1 1994 2013
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 2014 2015
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: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 9 2 2003 2016
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 21 1 1989 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 20 1 1984 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 1 1998 2015
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 2008 2017
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 2 1992 2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 16 1 1995 2017
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: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 1 2000 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 1 2003 2017
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: 8841
Gene Symbol: HDAC3
HDAC3
histone deacetylase 3 0.511 0.731 0.57
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 25 1 1999 2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 10 1 1999 2016