Source: CLINVAR

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 0.557 0.483 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 0.947 1 4 2004 2018
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 1 1 2005 2017
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 1 1 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 1 1998 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 1 2 1999 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 3 2 2004 2018
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 1 2 2000 2017
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 1 6 2002 2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.667 0.345 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 1.000 1 1 2010 2016
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.594 0.621 3.0E-22
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 1.000 1 2 2006 2015
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.659 0.414 5.4E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 1.000 1 1 2014 2018
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.690 0.276 7.3E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.130 1.000 0 1 2006 2014
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.607 0.483 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 1.000 1 7 2015 2016
Entrez Id: 2917
Gene Symbol: GRM7
GRM7
glutamate metabotropic receptor 7 0.659 0.414 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 1.000 1 3 2002 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 1.000 0 1 1999 2005
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.532 0.759 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 1.000 1 2 2001 2015
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.656 0.414 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 1.000 1 1 2008 2015
Entrez Id: 54617
Gene Symbol: INO80
INO80
INO80 complex subunit 0.928 0.172 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 2 2015 2015
Entrez Id: 51550
Gene Symbol: CINP
CINP
cyclin dependent kinase 2 interacting protein 0.886 0.138 5.9E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2016 2016
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
ferric chelate reductase 1 like 0.743 0.172 6.8E-03
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 3 2017 2017
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
potassium channel tetramerization domain containing 3 0.928 0.103 8.8E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 0.701 0.276 2.6E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23
protein tyrosine phosphatase, non-receptor type 23 0.834 0.207 0.59
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.685 0.379 4.9E-02
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015
Entrez Id: 56131
Gene Symbol: PCDHB4
PCDHB4
protocadherin beta 4 8.1E-12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 1 2015 2015