×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.400
Biomarker
disease
CTD_human
Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
22264704
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
Biomarker
disease
CTD_human
Novel variants identified in methyl-CpG-binding domain genes in autistic individuals.
19921286
2010
×
Entrez Id:
11284
Gene Symbol:
PNKP
PNKP
0.400
Biomarker
disease
CTD_human
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
20118933
2010
×
Entrez Id:
348980
Gene Symbol:
HCN1
HCN1
0.400
Biomarker
disease
CTD_human
Increased seizure severity and seizure-related death in mice lacking HCN1 channels.
20384728
2010
×
Entrez Id:
93183
Gene Symbol:
PIGM
PIGM
0.400
Biomarker
disease
CTD_human
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
16767100
2006
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
0.400
Biomarker
disease
CTD_human
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
15651030
2005
×
Entrez Id:
6529
Gene Symbol:
SLC6A1
SLC6A1
0.400
Biomarker
disease
CTD_human
Increased expression of gamma-aminobutyric acid transporter-1 in the forebrain of infant rats with corticotropin-releasing hormone-induced seizures but not in those with hyperthermia-induced seizures.
11074187
2000
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.400
CausalMutation
disease
CLINVAR
×
Entrez Id:
6529
Gene Symbol:
SLC6A1
SLC6A1
0.400
Biomarker
disease
HPO
×
Entrez Id:
11284
Gene Symbol:
PNKP
PNKP
0.400
Biomarker
disease
HPO
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.400
CausalMutation
disease
CLINVAR
×
Entrez Id:
348980
Gene Symbol:
HCN1
HCN1
0.400
Biomarker
disease
HPO
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
0.400
Biomarker
disease
HPO
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.400
Biomarker
disease
HPO
×
Entrez Id:
93183
Gene Symbol:
PIGM
PIGM
0.400
Biomarker
disease
HPO
×
Entrez Id:
116
Gene Symbol:
ADCYAP1
ADCYAP1
0.300
Biomarker
disease
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
disease
CTD_human
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
28215400
2017
×
Entrez Id:
7249
Gene Symbol:
TSC2
TSC2
0.300
Biomarker
disease
CTD_human
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.
28215400
2017
×
Entrez Id:
3418
Gene Symbol:
IDH2
IDH2
0.300
Biomarker
disease
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:
6904
Gene Symbol:
TBCD
TBCD
0.300
Biomarker
disease
CTD_human
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
27666370
2016
×
Entrez Id:
43
Gene Symbol:
ACHE
ACHE
0.300
Therapeutic
disease
CTD_human
HI-6 assisted catalytic scavenging of VX by acetylcholinesterase choline binding site mutants.
27083141
2016
×
Entrez Id:
5580
Gene Symbol:
PRKCD
PRKCD
0.300
Biomarker
disease
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
disease
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
disease
CTD_human
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
27466191
2016
×
Entrez Id:
249
Gene Symbol:
ALPL
ALPL
0.300
Therapeutic
disease
CTD_human
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation.
27466191
2016