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: 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 0 2004 2018
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.773 0.207 2.0E-15
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.528 0.655 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 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 0 2015 2015
Entrez Id: 9997
Gene Symbol: SCO2
SCO2
SCO2, cytochrome c oxidase assembly protein 0.648 0.414 6.8E-07
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
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 0 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 0 2000 2017
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 0 2015 2015
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 0 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 0 2006 2015
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
SPG7, paraplegin matrix AAA peptidase subunit 0.542 0.655 3.3E-35
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
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 0 2015 2015
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.580 0.379 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
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 0 2005 2017
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 0 2001 2015
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
BICD cargo adaptor 2 0.720 0.414 0.98
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
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 0 2017 2017
Entrez Id: 57325
Gene Symbol: KAT14
KAT14
lysine acetyltransferase 14 1.000 0.069
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2016 2016
Entrez Id: 93649
Gene Symbol: MYOCD
MYOCD
myocardin 0.659 0.483 0.39
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E
tubulin alpha 3e 0.928 0.103 2.7E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.510 0.759 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
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 0 2002 2017
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
chromosome 12 open reading frame 57 0.639 0.483 5.6E-05
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
G protein subunit beta 1 0.645 0.483 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2017 2017
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
tRNA splicing endonuclease subunit 15 0.815 0.207 0.29
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 1 0 2015 2015