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: 50
Gene Symbol: ACO2
ACO2
aconitase 2 0.619 0.654 0.21
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 2 2012 2017
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: 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: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 10 2 2003 2015
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 11 1 2001 2017
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: 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: 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: 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: 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: 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: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 1 1992 2017
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: 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: 546
Gene Symbol: ATRX
ATRX
ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 21 1 1992 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 5 3 2001 2009
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 8 1 1968 2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 10 1 1998 2011
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: 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: 776
Gene Symbol: CACNA1D
CACNA1D
calcium voltage-gated channel subunit alpha1 D 0.582 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 9 1 2000 2017
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: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.538 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 1 2008 2015
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 1 2010 2017