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: 1718
Gene Symbol: DHCR24
DHCR24
24-dehydrocholesterol reductase 0.572 0.655 3.8E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
3-hydroxy-3-methylglutaryl-CoA lyase 0.785 0.207 2.4E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 4 0 1996 2018
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.639 0.276 6.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.493 0.724 2.6E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.681 0.345 6.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
acyl-CoA oxidase 1 0.639 0.448 9.5E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.799 0.207 0.81
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 strong 1 0 2017 2017
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase, RNA specific 0.586 0.655 3.7E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
adenosine monophosphate deaminase 2 0.672 0.379 1.8E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.685 0.379 1.0E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.667 0.414
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
ADP ribosylation factor guanine nucleotide exchange factor 2 0.685 0.345 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
AKT serine/threonine kinase 3 0.558 0.621 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 0 0 2015 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
alanyl-tRNA synthetase 2, mitochondrial 0.663 0.379 2.7E-17
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.320 strong 1.000 0 0 2015 2018
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
aldehyde dehydrogenase 5 family member A1 0.609 0.345 3.4E-07
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.594 0.621 3.0E-22
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
ALG11, alpha-1,2-mannosyltransferase 0.815 0.172 9.3E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
ALG12, alpha-1,6-mannosyltransferase 0.799 0.207 1.4E-07
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13, UDP-N-acetylglucosaminyltransferase subunit 0.720 0.241 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.320 strong 1.000 0 0 2013 2017
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2, alpha-1,3/1,6-mannosyltransferase 0.676 0.310 7.6E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
ALG3, alpha-1,3- mannosyltransferase 0.676 0.345 1.6E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 29929
Gene Symbol: ALG6
ALG6
ALG6, alpha-1,3-glucosyltransferase 0.785 0.207 5.4E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
ALG8, alpha-1,3-glucosyltransferase 0.815 0.241 5.2E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0