Source: CURATED

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: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.310 None 1.000 6 0 1982 2013
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 6 0 1991 2000
Entrez Id: 5020
Gene Symbol: OXT
OXT
oxytocin/neurophysin I prepropeptide 0.615 0.423 0.71
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 6 0 1970 2009
Entrez Id: 1128
Gene Symbol: CHRM1
CHRM1
cholinergic receptor muscarinic 1 0.653 0.577 0.99
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 5 0 1994 2003
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit 0.532 0.654 4.2E-04
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 5 0 1998 2004
Entrez Id: 2353
Gene Symbol: FOS
FOS
Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 4 0 1996 2003
Entrez Id: 6750
Gene Symbol: SST
SST
somatostatin 0.399 0.885 0.34
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1994 2010
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1996 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1998 2001
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1997 2011
Entrez Id: 3350
Gene Symbol: HTR1A
HTR1A
5-hydroxytryptamine receptor 1A 0.522 0.846 0.20
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1989 2005
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 2004 2007
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
dopamine receptor D2 0.436 0.846 0.75
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 3 0 1991 2002
Entrez Id: 847
Gene Symbol: CAT
CAT
catalase 0.359 0.962 1.6E-10
CUI: C0270844
Disease: Tonic Seizures
Tonic 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: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 2010 2010
Entrez Id: 43
Gene Symbol: ACHE
ACHE
acetylcholinesterase (Cartwright blood group) 0.445 0.885 1.00
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 2010 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1995 2016
Entrez Id: 7200
Gene Symbol: TRH
TRH
thyrotropin releasing hormone 0.519 0.846 8.9E-04
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1999 2005
Entrez Id: 1143
Gene Symbol: CHRNB4
CHRNB4
cholinergic receptor nicotinic beta 4 subunit 0.644 0.423 0.14
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 2004 2004
Entrez Id: 1138
Gene Symbol: CHRNA5
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit 0.593 0.577 2.1E-06
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1998 2004
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 2000 2005
Entrez Id: 2572
Gene Symbol: GAD2
GAD2
glutamate decarboxylase 2 0.529 0.731 0.75
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1996 1996
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1972 2003
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 2011 2017
Entrez Id: 4986
Gene Symbol: OPRK1
OPRK1
opioid receptor kappa 1 0.555 0.615 4.1E-05
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures
phenotype 0.300 None 1.000 2 0 1991 2007