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: 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: 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: 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: 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: 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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 1966 2013
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: 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: 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: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 1 1 2016 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: 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: 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: 8139
Gene Symbol: GAN
GAN
gigaxonin 0.674 0.500 2.5E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 2 1990 2009
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: 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: 57176
Gene Symbol: VARS2
VARS2
valyl-tRNA synthetase 2, mitochondrial 0.666 0.577 5.8E-17
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 2 2011 2017
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: 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: 137682
Gene Symbol: NDUFAF6
NDUFAF6
NADH:ubiquinone oxidoreductase complex assembly factor 6 0.659 0.615 9.1E-08
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 2008 2016
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 0.656 0.577
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 3 1990 2015
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: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 2003 2017