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: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.420 None 1.000 0 0 1998 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
polynucleotide kinase 3'-phosphatase 0.553 0.692 3.7E-14
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2012 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 93183
Gene Symbol: PIGM
PIGM
phosphatidylinositol glycan anchor biosynthesis class M 0.695 0.346 5.4E-05
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2006 2006
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1
solute carrier family 6 member 1 0.592 0.538 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2000 2000
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.130 None 1.000 0 0 2005 2010
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.110 None 1.000 0 0 2005 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.110 None 1.000 0 0 2003 2003
Entrez Id: 6096
Gene Symbol: RORB
RORB
RAR related orphan receptor B 0.644 0.500 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
chromosome X open reading frame 56 0.705 0.385 0.95
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4 0.653 0.231 3.1E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
ATPase family AAA domain containing 3A 0.628 0.692 4.1E-09
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
N-glycanase 1 0.601 0.654 1.5E-13
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.100 None 0 0