Source: ALL

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 5 1 1998 2018
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 1 0 2012 2012
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 1 0 2010 2010
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 1 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 1 0 2010 2010
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 1 0 2000 2000
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 1 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 1 0 2006 2006
Entrez Id: 5816
Gene Symbol: PVALB
PVALB
parvalbumin 0.547 0.692 8.7E-02
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.320 None 1.000 3 0 2008 2019
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.310 None 1.000 4 0 1989 2010
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.310 None 1.000 4 0 2004 2018
Entrez Id: 4988
Gene Symbol: OPRM1
OPRM1
opioid receptor mu 1 0.457 0.808 7.9E-11
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.310 None 1.000 3 0 1991 2007
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 6 0 1991 2000
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 6 0 1982 1991
Entrez Id: 5020
Gene Symbol: OXT
OXT
oxytocin/neurophysin I prepropeptide 0.615 0.423 0.71
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 6 0 1970 2009
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit 0.532 0.654 4.2E-04
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 5 0 1998 2004
Entrez Id: 1128
Gene Symbol: CHRM1
CHRM1
cholinergic receptor muscarinic 1 0.653 0.577 0.99
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 5 0 1994 2003
Entrez Id: 2353
Gene Symbol: FOS
FOS
Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 4 0 1996 2003
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 3 0 1997 2011
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 3 0 1996 2011
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
dopamine receptor D2 0.436 0.846 0.75
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 3 0 1991 2002
Entrez Id: 6750
Gene Symbol: SST
SST
somatostatin 0.399 0.885 0.34
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 3 0 1994 2010
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 3 0 2008 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 2 0 2010 2010
Entrez Id: 7200
Gene Symbol: TRH
TRH
thyrotropin releasing hormone 0.519 0.846 8.9E-04
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.300 None 1.000 2 0 1999 2005