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: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
ribonuclease H2 subunit A 0.696 0.379 3.5E-03
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: 10585
Gene Symbol: POMT1
POMT1
protein O-mannosyltransferase 1 0.559 0.552 2.5E-17
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
STAM binding protein 0.667 0.448 5.3E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2
NPR2 like, GATOR1 complex subunit 0.701 0.276 0.32
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
phenylalanyl-tRNA synthetase 2, mitochondrial 0.690 0.276 8.2E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3
canopy FGF signaling regulator 3 0.928 0.138 0.42
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 11019
Gene Symbol: LIAS
LIAS
lipoic acid synthetase 0.707 0.414 2.4E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.580 0.621 0.42
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10524
Gene Symbol: KAT5
KAT5
lysine acetyltransferase 5 0.573 0.621 0.32
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.559 0.690 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.611 0.345 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
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: 10059
Gene Symbol: DNM1L
DNM1L
dynamin 1 like 0.570 0.655 4.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
Ts translation elongation factor, mitochondrial 0.696 0.345 9.6E-07
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10188
Gene Symbol: TNK2
TNK2
tyrosine kinase non receptor 2 0.663 0.276 4.3E-09
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: 10274
Gene Symbol: STAG1
STAG1
stromal antigen 1 0.701 0.448 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
tubulin beta 3 class III 0.569 0.655 1.5E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
tubulin beta 4A class IVa 0.707 0.276 0.13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 strong 0 0
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
dolichol kinase 0.727 0.310 1.1E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 22866
Gene Symbol: CNKSR2
CNKSR2
connector enhancer of kinase suppressor of Ras 2 0.773 0.241 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0