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: 6904
Gene Symbol: TBCD
TBCD
tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.610 strong 1.000 0 0 2016 2019
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.691 0.269 9.5E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.600 strong 1.000 0 0 2005 2014
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 strong 1.000 0 0 2009 2019
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.900 0 0 2001 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.952 0 0 1997 2020
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 1.000 0 1 2005 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.933 0 2 1998 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 1.000 0 0 1996 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 strong 1.000 0 1 2006 2019
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.450 None 1.000 0 0 2008 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.450 None 1.000 0 0 1995 2016
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit 0.532 0.654 4.2E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 None 1.000 0 0 1998 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 None 0.800 0 0 2012 2019
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 None 1.000 0 0 2008 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.440 strong 1.000 0 0 1998 2020
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
glutamate-ammonia ligase 0.513 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 strong 1.000 0 0 2001 2019
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.612 0.577 0.91
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 None 0.750 0 0 2015 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 None 1.000 0 0 2007 2018
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.420 strong 1.000 0 1 2015 2019
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
choline O-acetyltransferase 0.520 0.808 5.6E-11
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2010 2019
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
adaptor related protein complex 4 subunit sigma 1 0.674 0.385 1.7E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2015 2015
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 1999 2018
Entrez Id: 28514
Gene Symbol: DLL1
DLL1
delta like canonical Notch ligand 1 0.492 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 None 1.000 0 0 2018 2019
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 strong 1.000 0 0 2009 2018