Source: GENOMICS_ENGLAND

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: 131118
Gene Symbol: DNAJC19
DNAJC19
DnaJ heat shock protein family (Hsp40) member C19 0.743 0.414 4.3E-04
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 5 0 2006 2017
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
OPA3, outer mitochondrial membrane lipid metabolism regulator 0.652 0.276 0.49
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 5 0 1993 2015
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
EPM2A, laforin glucan phosphatase 0.652 0.345 9.7E-06
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 3 0 2000 2016
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
Dmx like 2 0.743 0.310 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 moderate 3 0 2012 2018
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.594 0.655 0.19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 moderate 2 0 2014 2016
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
NK6 homeobox 2 0.815 0.379 3.0E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2004 2017
Entrez Id: 80331
Gene Symbol: DNAJC5
DNAJC5
DnaJ heat shock protein family (Hsp40) member C5 0.735 0.207 0.83
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2011 2016
Entrez Id: 8733
Gene Symbol: GPAA1
GPAA1
glycosylphosphatidylinositol anchor attachment 1 0.707 0.345 3.8E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2014 2017
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
RNA polymerase III subunit A 0.676 0.448 1.6E-23
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2011 2015
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
zinc finger FYVE-type containing 26 0.636 0.552 5.8E-23
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 2 0 2015 2015
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
NHL repeat containing E3 ubiquitin protein ligase 1 0.701 0.172 7.6E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2003 2006
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
ELOVL fatty acid elongase 4 0.633 0.310 0.84
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 2 0 2014 2015
Entrez Id: 10466
Gene Symbol: COG5
COG5
component of oligomeric golgi complex 5 0.752 0.241 1.2E-18
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 moderate 2 0 2010 2018
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
X-ray repair cross complementing 1 0.449 0.828 4.8E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2017 2017
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
VPS53, GARP complex subunit 0.659 0.379 8.2E-08
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2015 2015
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8
ataxin 8 0.752 0.172
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 1999 1999
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7, paraplegin matrix AAA peptidase subunit 0.542 0.655 3.3E-35
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 1 0 2015 2016
Entrez Id: 23352
Gene Symbol: UBR4
UBR4
ubiquitin protein ligase E3 component n-recognin 4 0.762 0.276 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2014 2014
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
ubiquitin C-terminal hydrolase L1 0.527 0.759 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2013 2013
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
ATPase phospholipid transporting 8A2 0.676 0.414 8.2E-12
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2013 2013
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.663 0.414 1.9E-13
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 1 0 2016 2016
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.633 0.552 4.8E-08
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2015 2015
Entrez Id: 27445
Gene Symbol: PCLO
PCLO
piccolo presynaptic cytomatrix protein 0.656 0.448 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2015 2015
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
glutamate ionotropic receptor delta type subunit 2 0.672 0.345 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 1 0 2015 2015
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4 0.676 0.207 7.8E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 1992 1992