Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Biomarker phenotype BEFREE The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6 months. 22656320 2013
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Biomarker phenotype CTD_human Induced microseizures in West syndrome. 1656808 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Therapeutic phenotype CTD_human Induced microseizures in West syndrome. 1656808 1991
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Therapeutic phenotype CTD_human [A case of Aicardi syndrome with moderate psychomotor retardation]. 2169275 1990
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Biomarker phenotype CTD_human [A case of Aicardi syndrome with moderate psychomotor retardation]. 2169275 1990
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Biomarker phenotype 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 		0.310 Therapeutic phenotype 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 		0.310 Biomarker phenotype CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097 1987
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Therapeutic phenotype CTD_human Cardiac hypertrophy associated with ACTH therapy for childhood seizure disorder. 2821097 1987
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Therapeutic phenotype CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019 1984
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Biomarker phenotype CTD_human [Modalities and side effects of ACTH therapy of diffuse epilepsy in children]. 6324019 1984
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.310 Therapeutic phenotype 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 		0.310 Biomarker phenotype 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 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		0.300 Biomarker phenotype CTD_human Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400 2017
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		0.300 Biomarker phenotype 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 		0.300 Therapeutic phenotype 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 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141 2016
Entrez Id: 43
Gene Symbol: ACHE
ACHE 		0.300 Therapeutic phenotype CTD_human HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants. 27083141 2016
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.300 Biomarker phenotype 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 		0.300 Therapeutic phenotype CTD_human Enhancement of endocannabinoid signaling protects against cocaine-induced neurotoxicity. 25933444 2015