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: 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: 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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 0 1
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: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 0 2
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 0 5
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
calcium/calmodulin dependent protein kinase II alpha 0.612 0.538 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 1 1 2017 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
calcium/calmodulin dependent protein kinase II beta 0.626 0.538 0.74
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 1 2 2017 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: 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: 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: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.615 4.7E-23
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 2 2 2013 2015
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: 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: 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: 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: 2070
Gene Symbol: EYA4
EYA4
EYA transcriptional coactivator and phosphatase 4 0.604 0.615 4.9E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 2005 2016
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: 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: 1487
Gene Symbol: CTBP1
CTBP1
C-terminal binding protein 1 0.559 0.692 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 3 1 1995 2017
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: 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: 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: 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: 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