Source: INFERRED

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: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 1.000 23 16 1984 2019
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 1 16 2014 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 15
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.932 0 15 2002 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 None 1.000 76 11 2001 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 5 11 1992 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 None 1.000 4 10 1998 2013
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 9
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.180 None 1.000 2 8 2014 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.617 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 1 8 2015 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 8 6 2006 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.923 6 6 2000 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 1 5 2014 2016
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit 0.631 0.538 0.12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 1.000 4 4 2013 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.700 strong 1.000 3 4 1998 2018
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 4 2017 2017
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.666 0.231 1.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 1 4 2016 2016
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 4
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 4 2017 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 4
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.944 0 4 2004 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 4 3 2009 2019
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.517 0.769 1.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 1 3 2010 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 None 0.957 0 3 2012 2020
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 3