Source: HPO

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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 0.938 0 0 2002 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.441 0.690 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 1.000 0 0 1998 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 1.000 0 0 2005 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 0.947 0 0 2004 2018
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
leucine zipper and EF-hand containing transmembrane protein 1 0.555 0.586 1.1E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 0.909 0 0 2001 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.480 0.875 0 0 1999 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.460 1.000 0 0 2004 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.450 0.800 0 0 2008 2015
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.561 0.517 0.95
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 1.000 0 0 2008 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2, mitochondrial 0.469 0.655 0.87
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 0.667 0 0 2012 2018
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium voltage-gated channel subfamily J member 11 0.542 0.552 9.8E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.420 1.000 0 0 2008 2015
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2 0.619 0.345 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 2012 2014
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ
multiple PDZ domain crumbs cell polarity complex component 0.645 0.310 1.2E-37
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 2004 2009
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.656 0.276 0.87
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 < 0.001 0 0 2015 2015
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, liver/bone/kidney 0.564 0.621 3.5E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 1995 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.494 0.655 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 2008 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.616 0.379 6.5E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 2010 2010
Entrez Id: 93183
Gene Symbol: PIGM
PIGM
phosphatidylinositol glycan anchor biosynthesis class M 0.685 0.138 5.2E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.410 1.000 0 0 2006 2007
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.639 0.276 6.0E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 0 0 1999 1999
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.458 0.828 0.32
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 0 0 1972 2004
Entrez Id: 2593
Gene Symbol: GAMT
GAMT
guanidinoacetate N-methyltransferase 0.667 0.241 1.0E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 0 0 2005 2005
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.518 0.655 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 0 0 2013 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.491 0.793 0.57
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 1.000 0 0 2000 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.586 0.276 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 0.952 0 0 2004 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.200 0.938 0 0 2002 2017