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: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.604 0.586 1.4E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.500 strong 0 0
Entrez Id: 81790
Gene Symbol: RNF170
RNF170
ring finger protein 170 0.928 0.069 0.52
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.500 strong 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.534 0.621 0.94
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.330 1.000 0 0 2000 2013
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: 10939
Gene Symbol: AFG3L2
AFG3L2
AFG3 like matrix AAA peptidase subunit 2 0.619 0.379 6.5E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 2010 2010
Entrez Id: 2911
Gene Symbol: GRM1
GRM1
glutamate metabotropic receptor 1 0.555 0.586 0.17
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 2012 2012
Entrez Id: 2395
Gene Symbol: FXN
FXN
frataxin 0.527 0.586 0.33
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 1981 1981
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
ataxin 3 0.579 0.517 9.3E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 limited 1.000 0 0 2000 2000
Entrez Id: 6908
Gene Symbol: TBP
TBP
TATA-box binding protein 0.564 0.793 6.9E-02
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 1.000 0 0 2004 2004
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
prodynorphin 0.528 0.414 1.3E-04
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.310 strong 1.000 0 0 2006 2006
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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