Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human Induced microseizures in West syndrome. 1656808

1991
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human Induced microseizures in West syndrome. 1656808

1991
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human [A case of Aicardi syndrome with moderate psychomotor retardation]. 2169275

1990
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human [A case of Aicardi syndrome with moderate psychomotor retardation]. 2169275

1990
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures. 2554740

1989
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human Therefore, we considered that the new brief tonic seizures, which appeared only during sleep in the course of ACTH therapy, were ACTH-induced seizures. 2554740

1989
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097

1987
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097

1987
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019

1984
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019

1984
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Therapeutic CTD_human Systemic morphine blocks the seizures induced by intracerebroventricular (i.c.v.) injections of opiates and opioid peptides. 7127082

1982
Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.310 Biomarker CTD_human Systemic morphine blocks the seizures induced by intracerebroventricular (i.c.v.) injections of opiates and opioid peptides. 7127082

1982
Entrez Id: 116
Gene Symbol: ADCYAP1
ADCYAP1
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human IL-6 knockout mice are protected from cocaine-induced kindling behaviors; possible involvement of JAK2/STAT3 and PACAP signalings. 29673861

2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. 27666370

2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model. 27469509

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Therapeutic CTD_human Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. 27466191

2016
Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human Protein kinase Cδ mediates trimethyltin-induced neurotoxicity in mice in vivo via inhibition of glutathione defense mechanism. 25895139

2016
Entrez Id: 43
Gene Symbol: ACHE
ACHE
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141

2016
Entrez Id: 43
Gene Symbol: ACHE
ACHE
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Therapeutic CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141

2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. 27466191

2016
Entrez Id: 2166
Gene Symbol: FAAH
FAAH
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Therapeutic CTD_human Enhancement of endocannabinoid signaling protects against cocaine-induced neurotoxicity. 25933444

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		0.300 Biomarker CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015