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: 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: 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: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 8 1 1982 2017
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
metabolism of cobalamin associated C 0.644 0.615 1.1E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 1 2006 2015
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 2001 2017
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 2 1998 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: 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: 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: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 11 2 1986 2011
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
peptidase, mitochondrial processing subunit alpha 0.633 0.577 3.4E-11
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 1998 2016
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
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
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: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 11 1 2014 2019
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
serpin family A member 1 0.410 0.923 6.8E-08
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 1983 2015
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: 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: 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: 1836
Gene Symbol: SLC26A2
SLC26A2
solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 6 1 1996 2010
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: 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: 3035
Gene Symbol: HARS1
HARS1
histidyl-tRNA synthetase 1 0.569 0.808 2.4E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 4 1 2012 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
NPC intracellular cholesterol transporter 1 0.518 0.692 6.5E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 7 2 1997 2012
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