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: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 27 6 1998 2016
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: 23064
Gene Symbol: SETX
SETX
senataxin 0.570 0.731 0.95
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 4 2004 2009
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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.200 None 1.000 23 3 1991 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
catenin beta 1 0.303 0.885 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 22 3 1991 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 22 3 1989 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 21 3 1999 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 18 3 1984 2015
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 16 3 1989 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 15 3 2011 2018
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
inositol 1,4,5-trisphosphate receptor type 1 0.534 0.846 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 14 3 2001 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 13 3 2012 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 3 1990 2015
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: 5373
Gene Symbol: PMM2
PMM2
phosphomannomutase 2 0.535 0.769 1.4E-17
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 12 3 1997 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
lysine methyltransferase 2B 0.529 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 9 3 1999 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: 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: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 29 2 1980 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 28 2 1991 2017
Entrez Id: 6651
Gene Symbol: SON
SON
SON DNA binding protein 0.565 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 28 2 1988 2016
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: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.150 None 0.967 26 2 1995 2018
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