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: 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: 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: 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: 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: 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: 23261
Gene Symbol: CAMTA1
CAMTA1
calmodulin binding transcription activator 1 0.645 0.483 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
spectrin repeat containing nuclear envelope protein 1 0.594 0.621 9.1E-50
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 23533
Gene Symbol: PIK3R5
PIK3R5
phosphoinositide-3-kinase regulatory subunit 5 0.752 0.345 0.71
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 25814
Gene Symbol: ATXN10
ATXN10
ataxin 10 0.672 0.310 4.3E-04
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.696 0.276 5.0E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
sacsin molecular chaperone 0.624 0.517 1.3E-23
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
feline leukemia virus subgroup C cellular receptor 1 0.639 0.621 1.1E-03
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
exosome component 3 0.656 0.448 1.4E-03
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.701 0.276 2.6E-07
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
DDHD domain containing 2 0.713 0.448 1.1E-10
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 23064
Gene Symbol: SETX
SETX
senataxin 0.627 0.690 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
eukaryotic translation initiation factor 2B subunit gamma 0.727 0.310 0.50
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
eukaryotic translation initiation factor 2B subunit beta 0.701 0.345 1.6E-10
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon 0.707 0.448 0.19
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
adaptor related protein complex 1 subunit sigma 2 0.676 0.414 0.88
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0