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: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.475 0.808 5.7E-04
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.330 strong 1.000 3 0 2016 2019
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
Ras homolog, mTORC1 binding 0.631 0.577 0.98
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.100 None 0.894 47 3 1995 2019
Entrez Id: 23158
Gene Symbol: TBC1D9
TBC1D9
TBC1 domain family member 9 0.399 0.846 2.8E-05
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.100 None 1.000 17 1 1995 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.100 None 1.000 11 1 2008 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.090 None 1.000 9 1 2004 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.070 None 1.000 7 1 2004 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.070 None 1.000 7 0 2015 2019
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2
ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.050 None 0.600 5 2 2008 2016
Entrez Id: 9961
Gene Symbol: MVP
MVP
major vault protein 0.512 0.769 6.8E-08
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.040 None 1.000 4 0 2003 2017
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.040 None 1.000 4 1 1998 2014
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.040 None 1.000 4 0 2014 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.040 None 1.000 4 0 2006 2018
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2011 2019
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
solute carrier family 12 member 2 0.552 0.808 0.96
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2011 2019
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
ATP binding cassette subfamily C member 1 0.445 0.808 1.2E-03
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2002 2020
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 1 2011 2018
Entrez Id: 1557
Gene Symbol: CYP2C19
CYP2C19
cytochrome P450 family 2 subfamily C member 19 0.467 0.846 6.5E-20
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2002 2011
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2005 2018
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.030 None 1.000 3 0 2010 2017
Entrez Id: 3146
Gene Symbol: HMGB1
HMGB1
high mobility group box 1 0.368 0.923 0.82
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1
EF-hand domain containing 1 0.659 0.231 1.9E-17
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.020 None 1.000 2 1 2012 2012
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.610 0.308 2.8E-05
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.020 None 1.000 2 0 2011 2016
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
disease 0.020 None 1.000 2 0 2013 2016