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: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 2 1 2015 2015
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
syntaxin 1B 0.650 0.308 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 1993 2016
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 19 2 1997 2014
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
RNA polymerase III subunit H 0.769 0.346 6.0E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 1 2012 2017
Entrez Id: 285463
Gene Symbol: CTBP1-AS
CTBP1-AS
CTBP1 antisense RNA 0.760 0.346
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 1995 2017
Entrez Id: 3781
Gene Symbol: KCNN2
KCNN2
potassium calcium-activated channel subfamily N member 2 0.769 0.385 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 21 1 1999 2016
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
patched domain containing 1 0.678 0.385 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 5 1 2010 2015
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.666 0.385 8.3E-16
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 1 1997 2011
Entrez Id: 51501
Gene Symbol: HIKESHI
HIKESHI
heat shock protein nuclear import factor hikeshi 0.751 0.385 0.52
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 2015 2017
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 0.792 0.385
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 2 1 2013 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
nucleotide binding protein like 0.670 0.423 1.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 2 1999 2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
WD repeat domain 45 0.647 0.423 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 10 1 2010 2017
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: 22906
Gene Symbol: TRAK1
TRAK1
trafficking kinesin protein 1 0.674 0.423 3.7E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 9 1 2003 2017
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
transcription factor 20 0.644 0.423 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 2 2007 2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CLN8 transmembrane ER and ERGIC protein 0.682 0.423 3.6E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 2 2015 2017
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 3 1981 2015
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.619 0.462 3.1E-07
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 1994 2016
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
zinc finger protein 335 0.711 0.462 6.9E-07
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 5 2 2009 2016
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
ER membrane protein complex subunit 1 0.700 0.462 6.7E-26
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 2 1 2013 2016
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
chromosome 11 open reading frame 65 0.670 0.462 2.0E-14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 0 1
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 26 2 1997 2017
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 17 2 1991 2018
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
adaptor related protein complex 4 subunit mu 1 0.638 0.500 4.5E-17
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 11 1 2009 2015
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 5 1 2007 2017