Source: ALL

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: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.760 strong 1.000 7 0 1996 2020
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.510 strong 1.000 3 0 2002 2010
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
calcium voltage-gated channel subunit alpha1 H 0.628 0.423 4.8E-10
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.500 None 1.000 13 5 2003 2020
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.500 None 0.917 12 3 1999 2019
Entrez Id: 8629
Gene Symbol: JRK
JRK
Jrk helix-turn-helix protein 0.612 0.500
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.420 None 1.000 3 0 1998 2001
Entrez Id: 51305
Gene Symbol: KCNK9
KCNK9
potassium two pore domain channel subfamily K member 9 0.615 0.577 0.96
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.310 None 1.000 1 0 2005 2005
Entrez Id: 114327
Gene Symbol: EFHC1
EFHC1
EF-hand domain containing 1 0.659 0.231 1.9E-17
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.310 None 1.000 1 1 1994 1994
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.230 None 1.000 4 1 2004 2020
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.220 None 1.000 3 0 2013 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 13 0 2006 2019
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 13 3 2002 2019
Entrez Id: 3363
Gene Symbol: HTR7
HTR7
5-hydroxytryptamine receptor 7 0.592 0.500 4.5E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2004 2004
Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 0.475 0.846 0.94
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
glutamate dehydrogenase 1 0.584 0.731 7.0E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2000 2000
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2010 2010
Entrez Id: 10369
Gene Symbol: CACNG2
CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2 0.729 0.385 0.92
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2008 2008
Entrez Id: 4889
Gene Symbol: NPY5R
NPY5R
neuropeptide Y receptor Y5 0.691 0.462 6.4E-03
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 4887
Gene Symbol: NPY2R
NPY2R
neuropeptide Y receptor Y2 0.612 0.577 3.6E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 4886
Gene Symbol: NPY1R
NPY1R
neuropeptide Y receptor Y1 0.628 0.423 4.3E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.110 None 1.000 1 0 2006 2006
Entrez Id: 81614
Gene Symbol: NIPA2
NIPA2
NIPA magnesium transporter 2 0.805 0.192 0.92
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.030 None 1.000 3 1 2012 2019
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
calcium voltage-gated channel subunit alpha1 G 0.590 0.577 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.030 None 0.667 3 0 2003 2017
Entrez Id: 50966
Gene Symbol: ECA1
ECA1
epilepsy, childhood absence 1 0.805 0.231
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.030 None 1.000 3 0 1999 2002
Entrez Id: 5816
Gene Symbol: PVALB
PVALB
parvalbumin 0.547 0.692 8.7E-02
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
disease 0.020 None 1.000 2 0 2009 2015