Source: CURATED

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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 4 0 2005 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 3 0 2006 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2010 2018
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2004 2007
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2002 2011
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2006 2018
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2010 2013
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2002 2008
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2015 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2006 2018
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 1996 2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2013 2018
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2005 2018
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 1995 2010
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2013 2018
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2010 2011
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 2 0 2013 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2004 2004
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 57282
Gene Symbol: SLC4A10
SLC4A10
solute carrier family 4 member 10 0.678 0.269 0.13
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease 0.300 None 1.000 1 0 2008 2008