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: 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: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 36 1 1989 2018
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: 2902
Gene Symbol: GRIN1
GRIN1
glutamate ionotropic receptor NMDA type subunit 1 0.561 0.692 0.98
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.130 None 1.000 25 1 1983 2017
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 25 1 1988 2017
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 23 1 2000 2018
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 23 1 1976 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 22 1 2007 2017
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: 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: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.606 0.654 1.1E-23
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 21 1 1993 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: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 20 1 1993 2018
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.608 0.615 0.11
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 20 1 2002 2017
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4
glutamate ionotropic receptor AMPA type subunit 4 0.631 0.615 1.8E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 20 1 1992 2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 19 1 1963 2016
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: 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: 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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 1 2001 2015
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: 284217
Gene Symbol: LAMA1
LAMA1
laminin subunit alpha 1 0.582 0.808 3.2E-32
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 1 1981 2016
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 1 1984 2014
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 1 1999 2017