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: 8398
Gene Symbol: PLA2G6
PLA2G6
phospholipase A2 group VI 0.494 0.724 2.8E-10
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: 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: 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: 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: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.727 0.310 2.2E-03
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.489 0.655 7.0E-16
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 10978
Gene Symbol: CLP1
CLP1
cleavage and polyadenylation factor I subunit 1 0.735 0.310 0.16
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
patatin like phospholipase domain containing 6 0.550 0.655 5.9E-13
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
kinesin family member 1C 0.752 0.414 0.75
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK
calcium/calmodulin dependent serine protein kinase 0.584 0.517 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
eukaryotic translation initiation factor 2B subunit delta 0.701 0.414 0.96
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
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
calcium voltage-gated channel subunit alpha1 G 0.627 0.379 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0