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: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.616 0.414 1.00
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: 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: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.672 0.379 1.8E-06
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 1 0 2014 2014
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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.567 0.586 1.5E-13
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.642 0.379 1.5E-03
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
anoctamin 10 0.676 0.310 9.7E-15
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
aprataxin 0.619 0.414 2.3E-10
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.672 0.379 8.5E-14
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.547 0.724 1.3E-11
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.701 0.310 9.3E-13
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 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: 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: 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: 6314
Gene Symbol: ATXN7
ATXN7
ataxin 7 0.609 0.517 0.99
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
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: 85300
Gene Symbol: ATCAY
ATCAY
ATCAY, caytaxin 0.773 0.241 0.66
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
ATP binding cassette subfamily B member 7 0.720 0.241 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.580 0.379 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 strong 0 0
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: 492
Gene Symbol: ATP2B3
ATP2B3
ATPase plasma membrane Ca2+ transporting 3 0.667 0.414 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.442 0.828 1.00
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 0 0
Entrez Id: 146227
Gene Symbol: BEAN1
BEAN1
brain expressed associated with NEDD4 1 0.701 0.241 5.5E-05
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group 0.300 limited 1 0 2009 2009